1326:. The specific etiology of low bone mineral density in GSD is not known, though it is strongly associated with poor metabolic control. Osteopenia may be directly caused by hypoglycemia, or the resulting endocrine and metabolic sequelae. Improvements in metabolic control have consistently been shown to prevent or reverse clinically relevant osteopenia in GSD I patients. In cases where osteopenia progresses with age, bone mineral density in the ribs is typically more severe than in the vertebrae. In some cases bone mineral density T-score will drop below -2.5, indicating osteoporosis. There is some evidence that osteopenia may be connected with associated kidney abnormalities in GSD I, particularly glomular hyperfiltration. The condition also seems responsive to calcium supplementation. In many cases bone mineral density can increase and return to the normal range given proper metabolic control and calcium supplementation alone, reversing osteopenia.
1503:
should approximate the 24-hour glucose production rate. The diet should contain approximately 65–70% carbohydrate, 10–15% protein, and 20–25% fat. At least a third of the carbohydrates should be supplied through the night, so that a young child goes no more than 3–4 hours without carbohydrate intake. Once a diagnosis is made, the priority in GSD I treatment is to maintain an adequate blood glucose. Patients aim to maintain a blood glucose above the 72 mg/dL (4.0 mmol/L) cutoff for hypoglycemia. GSD Ib patients have an additional treatment priority relating to neutropenia. Proper management of blood glucose in GSD I is critical in avoiding the more severe effects of high levels of
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1090:, both of which can exacerbate hypoglycemia in the setting of GSD I. In cases of acute lactic acidosis, patients need emergency care to stabilize blood oxygen, and restore blood glucose. Proper identification of lactic acidosis in undiagnosed children presents a challenge, since the first symptoms are typically vomiting and dehydration, both of which mimic childhood infections like
414:. GSD I is divided into two main types, GSD Ia and GSD Ib, which differ in cause, presentation, and treatment. There are also possibly rarer subtypes, the translocases for inorganic phosphate (GSD Ic) or glucose (GSD Id); however, a recent study suggests that the biochemical assays used to differentiate GSD Ic and GSD Id from GSD Ib are not reliable, and are therefore GSD Ib.
1519:
night at a rate supplying 0.5–0.6 g/kg/h of glucose for an infant, or 0.3–0.4 for an older child. This method requires a nasogastric or gastrostomy tube and pump. Sudden death from hypoglycemia has occurred due to malfunction or disconnection, and periodic cornstarch feedings are now preferred to continuous infusion.
746:
After weeks to months without treatment with consistent oral carbohydrates, infants will progress to show clear symptoms of hypoglycemia and lactic acidosis. Infants may present with paleness, clamminess, irritability, respiratory distress, and an inability to sleep through the night even in the second year of life.
1518:
In the last 30 years, two methods have been used to achieve this goal in young children: (1) continuous nocturnal gastric infusion of glucose or starch; and (2) night-time feedings of uncooked cornstarch. An elemental formula, glucose polymer, and/or cornstarch can be infused continuously through the
1249:
Hepatomegaly in GSD type I generally occurs without sympathetic enlargement of the spleen. GSD Ib patients may present with splenomegaly, but this is connected to the use of filgrastim to treat neutropenia in this subtype, not comorbid hepatomegaly. Hepatomegaly will persist to some degree throughout
1069:
degradation. Uric acid competes with lactic acid and other organic acids for renal excretion in the urine. In GSD I increased availability of G6P for the pentose phosphate pathway, increased rates of catabolism, and diminished urinary excretion due to high levels of lactic acid all combine to produce
877:
Glycogen in liver and (to a lesser degree) kidneys serves as a form of stored, rapidly accessible glucose, so that the blood glucose level can be maintained between meals. For about 3 hours after a carbohydrate-containing meal, high insulin levels direct liver cells to take glucose from the blood, to
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Visser, Gepke; Rake, Jan Peter; Labrune, Philippe; Leonard, James V.; Moses, Shimon; Ullrich, Kurt; Wendel, Udo; Groenier, Klaas H.; Smit, G. Peter A. (October 2002). "Granulocyte colony-stimulating factor in glycogen storage disease type 1b. Results of the
European Study on Glycogen Storage Disease
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With diagnosis before serious harm occurs, prompt reversal of acidotic episodes, and appropriate long-term treatment, most children will be healthy. With exceptions and qualifications, adult health and life span may also be fairly good, although lack of effective treatment before the mid-1980s means
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A patient with GSD, type 1b was treated with a liver transplant at UCSF Medical Center in 1993 that resulted in the resolution of hypoglycemic episodes and the need for the patient to stay away from natural sources of sugar. Other patients have undergone this procedure as well with positive results.
1395:
cause of neutropenia in GSD Ib is not well understood. Broadly, the problem arises from compromised cellular metabolism in the neutrophil, resulting in accelerated neutrophil apoptosis. The neutropenia in GSD is characterized by both a decrease in absolute neutrophil count and diminished neutrophil
1050:
resulting from amplified triglyceride production is another indirect effect of impaired gluconeogenesis, amplified by chronically low insulin levels. During fasting, the normal conversion of triglycerides to free fatty acids, ketones, and ultimately acetyl-CoA is impaired. Triglyceride levels in GSD
1020:
of GSD I is termed "fasting", or "post-absorptive", usually about 4 hours after the complete digestion of a meal. This inability to maintain adequate blood glucose levels during fasting results from the combined impairment of both glycogenolysis and gluconeogenesis. Fasting hypoglycemia is often the
745:
In the early weeks of life, undiagnosed infants with GSD I tolerate persistent hypoglycemia and compensated lactic acidosis between feedings without symptoms. Without consistent carbohydrate feeding, infant blood glucose levels typically measure between 25 and 50 mg/dL (1.4 to 2.8 mmol/L).
1522:
Cornstarch is an inexpensive way to provide gradually digested glucose. One tablespoon contains nearly 9 g carbohydrate (36 calories). Although it is safer, less expensive, and requires no equipment, this method does require that parents arise every 3–4 hours to administer the cornstarch. A typical
1486:
Once the diagnosis is suspected, the multiplicity of clinical and laboratory features usually makes a strong circumstantial case. If hepatomegaly, fasting hypoglycemia, and poor growth are accompanied by lactic acidosis, hyperuricemia, hypertriglyceridemia, and enlarged kidneys by ultrasound, GSD I
1424:
consumption, abnormal aggregation reactions, prolonged bleeding time, and low platelet adhesiveness. Severity of platelet dysfunction typically correlates with clinical condition, with the most severe cases correlating with lactic acidosis and severely lipidemia. It may cause clinically significant
1566:
Because of the potential for impaired platelet function, coagulation ability should be checked and the metabolic state normalized before surgery. Bleeding time may be normalized with 1–2 days of glucose loading, and improved with ddavp. During surgery, IV fluids should contain 10% dextrose and no
1502:
The primary treatment goal is prevention of hypoglycemia and the secondary metabolic derangements by frequent feedings of foods high in glucose or starch (which is readily digested to glucose). To compensate for the inability of the liver to provide sugar, the total amount of dietary carbohydrate
1490:
The next step is usually a carefully monitored fast. Hypoglycemia often occurs within six hours. A critical blood specimen obtained at the time of hypoglycemia typically reveals a mild metabolic acidosis, high free fatty acids and beta-hydroxybutyrate, very low insulin levels, and high levels of
1363:
Enlargement of the spleen (splenomegaly) is common in GSD I and has two primary causes. In GSD Ia, splenomegaly may be caused by a relation between the liver and the spleen which causes either to grow or shrink to match the relative size of the other, to a lessened degree. In GSD Ib, it is a side
1245:
GSD I patients often present with hepatomegaly from the time of birth. In fetal development, maternal glucose transferred to the fetus prevents hypoglycemia, but the storage of glucose as glycogen in the liver leads to hepatomegaly. There is no evidence that this hepatomegaly presents any risk to
729:
manifestations of hypoglycemia are less severe in GSD I than in other instances. Rather than acute hypoglycemia, GSD I patients experience persistent mild hypoglycemia. The diminished likelihood of neurological manifestations is due to the habituation of the brain to mild hypoglycemia. Given the
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The most significant acute problem in childhood is a vulnerability to episodes of metabolic acidosis precipitated by minor illnesses. If a vomiting illness persists longer than 2–4 hours, the child should be seen and assessed for dehydration, acidosis, and hypoglycemia. If these are developing,
1350:
with multiple derangements of renal tubular reabsorption, including tubular acidosis with bicarbonate and phosphate wasting. These tubular abnormalities in GSD I are typically detected and monitored by urinary calcium. Long term these derangements can exacerbate uric acid nephropathy, otherwise
1129:
often present as a consequence of elevated lactic acid in GSD I patients. When lactate levels are elevated, blood-borne lactic acid competes for the same kidney tubular transport mechanism as urate, limiting the rate that urate can be cleared by the kidneys into the urine. If present, increased
536:
Early research into GSD I identified numerous clinical manifestations falsely thought to be primary features of the genetic disorder. However, continuing research has revealed that these clinical features are the consequences of only one (in GSD Ia) or two (in GSD Ib) fundamental abnormalities:
1313:
as a potential driver. In studies, patients that have been put on a dietary regimen to keep blood sugar in a normal range spanning 72 to 108 mg/dL (4.0 to 6.0 mmol/L) have shown a decreased likelihood of developing adenomas. Moreover, patients with well controlled blood glucose have
778:
of the disease and have no symptoms. As with other autosomal recessive diseases, each child born to two carriers of the disease has a 25% chance of inheriting both copies of the faulty gene and manifesting the disease. Unaffected parents of a child with GSD I can be assumed to be carriers.
1620:
of the liver can develop in the second decade or later, with a small chance of later malignant transformation to hepatoma or hepatic carcinomas (detectable by alpha-fetoprotein screening). Several children with advanced hepatic complications have improved after liver transplantation.
1043:
and then converted via the gluconeogenic pathway to G6P. Accumulation of G6P inhibits conversion of lactate to pyruvate. The lactic acid level rises during fasting as glucose falls. In people with GSD I, it may not fall entirely to normal even when normal glucose levels are restored.
1448:
is a potential secondary effect of chronic or recurrent hypoglycemia, but is at least theoretically preventable. Normal neuronal and muscle cells do not express glucose-6-phosphatase, and are thus not impacted by GSD I directly. However, without proper treatment of hypoglycemia,
980:
Thus glucose-6-phosphatase mediates the final, key, step in both of the two main processes of glucose production during fasting. The effect is amplified because the resulting high levels of glucose-6-phosphate inhibit earlier key steps in both glycogenolysis and gluconeogenesis.
1429:. Additionally, GSD I patients may present with thrombocytopenia as a consequence of splenomegaly. In the setting of splenomegaly various hematologic factors may be sequestered in the tissues of the spleen as blood is filtered through the organ. This can diminish levels of
1226:. Without this process, the body is unable to liberate glycogen from the liver and convert it into blood glucose, leading to an accumulation of stored glycogen in the liver. Hepatomegaly from the accumulation of stored glycogen in the liver is considered a form of
715:. However, after birth, the inability to maintain blood glucose from stored glycogen in the liver causes measurable hypoglycemia in no more than 1–2 hours after feedings. Without proper dietary treatment after birth, prolonged hypoglycemia often leads to sudden
1608:
Without adequate metabolic treatment, patients with GSD I have died in infancy or childhood of overwhelming hypoglycemia and acidosis. Those who survived were stunted in physical growth and delayed in puberty because of chronically low insulin levels.
1082:. Baseline elevations generally range from 4 to 10 mol/mL, which will not cause any clinical impact. However, during and after an episode of low blood sugar, lactate levels will abruptly rise to exceed 15 mol/mL, the threshold for
1487:
is the most likely diagnosis. The differential diagnosis list includes glycogenoses types III and VI, fructose 1,6-bisphosphatase deficiency, and a few other conditions (page 5), but none are likely to produce all of the features of GSD I.
1346:. GSD I may present with various kidney complications. Renal tubular abnormalities related to hyperlactatemia are seen early in life, likely because prolonged lactic acidosis is more likely to occur in childhood. This will often present as
1134:
catabolism is an additional contributing factor. Uric acid levels of 6 to 12 mg/dl (530 to 1060 umol/L) are common among GSD I patients, if the disease is not properly treated. In some affected people, the use of the medication
1294:
in GSD I range from 0% to 11%, with the latter figure representing more recent research. One reason for the increasing estimate is the growing population of GSD I patients surviving into adulthood, when most adenomas develop.
1526:
Long-term management should eliminate hypoglycemic symptoms and maintain normal growth. Treatment should achieve normal glucose, lactic acid, and electrolyte levels, and only mild elevations of uric acid and triglycerides.
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function. Neutrophils use a specific G6P metabolic pathway which relies on the presence of G6Pase-β or G6PT to maintain energy homeostasis within the cell. The absence of G6PT in GSD Ib limits this pathway, leading to
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Dale, David C.; Bolyard, Audrey Anna; Marrero, Tracy M.; Phan, Lan; Boxer, Laurence A.; Kishnani, Priya S.; Kurtzberg, Joanne; Weinstein, David A. (2011-11-18). "Neutropenia in
Glycogen Storage Disease 1b (GSD1b)".
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consistently seen a reduction in the size and number of hepatic adenomas, suggesting that adenomas may be caused by imbalances of hepatotropic agents like serum insulin and especially serum glucagon in the liver.
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Kishnani, Priya S.; Austin, Stephanie L.; Abdenur, Jose E.; Arn, Pamela; Bali, Deeksha S.; Boney, Anne; Chung, Wendy K.; Dagli, Aditi I.; Dale, David; Koeberl, Dwight; Somers, Michael J. (November 2014).
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convert it to glucose-6-phosphate (G6P) with the enzyme glucokinase, and to add the G6P molecules to the ends of chains of glycogen (glycogen synthesis). Excess G6P is also shunted into production of
1580:
intravenous fluids should be provided at a rate above maintenance. For mild acidosis, an effective fluid is 10% dextrose in ½ normal saline with 20 mEq/L KCl, but if acidosis is severe, 75–100 mEq/L
1494:
The diagnosis is definitively confirmed by liver biopsy with electron microscopy and assay of glucose-6-phosphatase activity in the tissue and/or specific gene testing, available in recent years.
462:. Other functions of the liver and kidneys are initially intact in GSD I, but are susceptible to other problems. Without proper treatment, GSD I causes chronic low blood sugar, which can lead to
1113:. In adults and children, the high concentrations of lactate cause significant discomfort in the muscles. This discomfort is an amplified form of the burning sensation a runner may feel in the
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The most common forms of GSD I are designated GSD Ia and GSD Ib, the former accounting for over 80% of diagnosed cases and the latter for less than 20%. A few rarer forms have been described.
1420:
Impaired platelet aggregation is an uncommon consequence of chronic hypoglycemia, seen in GSD I patients. Research has demonstrated decreased platelet function, characterized by decreased
1491:
glucagon, cortisol, and growth hormone. Administration of intramuscular or intravenous glucagon (0.25 to 1 mg, depending on age) or epinephrine produces little rise of blood sugar.
897:
of a meal is complete, insulin levels fall, and enzyme systems in the liver cells begin to remove glucose molecules from strands of glycogen in the form of G6P. This process is termed
3061:
145:
1306:
deposition, which is otherwise commonly observed in focal nodular hyperplasia. Unlike common hepatic adenomas related to oral contraception, hemorrhaging in GSD I patients is rare.
1286:
have been observed in patients as young as fourteen. Adenomas, composed of heterogeneous neoplasms, may occur individually or in multiples. Estimates on the rate of conversion of a
1021:
most significant problem in GSD I, and typically the problem that leads to the diagnosis. Chronic hypoglycemia produces secondary metabolic adaptations, including chronically low
2288:"Thrombocytopenia in association with splenomegaly during granulocyte-colony-stimulating factor treatment in mice is not caused by hypersplenism and is resolved spontaneously"
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Although a liver transplant resulted in the resolution of hypoglycemia it did not however resolve the chronic neutropenia and the risk of infection among patients.
1098:. Moreover, both of these common infections can precipitate more severe hypoglycemia in undiagnosed children, making diagnosis of the underlying cause difficult.
1298:
Treatment standards dictate regular observation of the liver by MRI or CT scan to monitor for structural abnormalities. Hepatic adenomas may be misidentified as
3054:
965:. The last step of normal gluconeogenesis, like the last step of glycogenolysis, is the dephosphorylation of G6P by glucose-6-phosphatase to free glucose and
1117:
after sprinting, which is caused by a brief buildup of lactic acid. Proper control of hypoglycemia in GSD I eliminates the possibility for lactic acidosis.
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558:
These fundamental abnormalities give rise to a small number of primary clinical manifestations, which are the features considered in diagnosis of GSD I:
1166:
in patients with frequent prolonged hypoglycemia. It may also be caused by intracellular accumulation of glucose-6-phosphate with secondary shunting to
2204:
Wang, David Q.; Carreras, Caroline T.; Fiske, Laurie M.; Austin, Stephanie; Boree, Danielle; Kishnani, Priya S.; Weinstein, David A. (September 2012).
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remaining within the normal range. However, liver function may be affected by other hepatic complications in adulthood, including the development of
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Soejima, K.; Landing, B. H.; Roe, T. F.; Swanson, V. L. (1985). "Pathologic studies of the osteoporosis of Von Gierke's disease (glycogenosis 1a)".
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160:
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Persistent elevation of uric acid above 6.5 mg/dl warrants treatment with allopurinol to prevent uric acid deposition in kidneys and joints.
1238:. Reductions in the mass of the liver are possible, since most patients retain residual hepatic function that allows for the liberation of stored
2430:
Bali, DS; Chen, YT; Goldstein, JL; Pagon, RA; Adam, MP; Bird, TD; Dolan, CR; Fong, CT; et al. (1993). "Glycogen
Storage Disease Type I".
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2105:"Diagnosis and management of glycogen storage disease type I: a practice guideline of the American College of Medical Genetics and Genomics"
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1547:) should be minimized. Although elemental formulas are available for infants, many foods contain fructose or galactose in the forms of
922:. The free glucose molecules can be transported out of the liver cells into the blood to maintain an adequate supply of glucose to the
589:
Affected people commonly present with secondary clinical manifestations, linked to one or more of the primary clinical manifestations:
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In addition, there are several clinical manifestations that often result from the treatment of the primary clinical manifestations:
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uric acid levels several times normal. Although hyperuricemia is asymptomatic for years, kidney and joint damage gradually accrue.
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83:
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Metabolic control often diminishes during and after puberty, as a result of a patient outgrowing their dietary treatment plan.
1278:
of hepatic adenomas in GSD I remains unknown, despite ongoing research. The typical GSD I patient presenting with at least one
1401:
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driven by hyperlactatemia. In adolescence and beyond, glomerular disease may independently develop, initially presenting as
65:
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Chen, Tzu-Lin; Chiang, Ya-Wen; Lin, Guan-Ling; Chang, Hsin-Hou; Lien, Te-Sheng; Sheh, Min-Hua; Sun, Der-Shan (2018-05-02).
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arises from impairment of gluconeogenesis. Lactic acid is generated both in the liver and muscle and is oxidized by NAD to
2154:"Hepatocellular adenomas in glycogen storage disease type I and III: a series of 43 patients and review of the literature"
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of approximately 1 in 50,000 to 100,000 births. None of the glycogenoses are currently detected by standard or extended
1461:). The most dramatic developmental delays are often the cause of severe (not just persistent) episodes of hypoglycemia.
1453:
commonly results from chronically low insulin levels, persistent acidosis, chronic elevation of catabolic hormones, and
1309:
While the reason for the high prevalence of adenomas in GSD I is unclear, research since the 1970s has implicated serum
1139:
is necessary to lower blood urate levels. Consequences of hyperuricemia among GSD I patients include the development of
630:, caused by neutrophil dysfunction and exacerbated by the increased carbohydrate intake required to prevent hypoglycemia
4272:
3614:
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2860:
2759:"Lipids in hepatic glycogen storage diseases: pathophysiology, monitoring of dietary management and future directions"
497:, if untreated, makes GSD Ib patients susceptible to infection. The principal treatment for this feature of GSD Ib is
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episodes of vomiting due to metabolic acidosis, often precipitated by minor illness and accompanied by hypoglycemia
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in diagnostic imaging, though this condition is rare. However, hepatic adenomas in GSD I uniquely involve diffuse
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at 18–22 weeks of gestation, but no fetal treatment has been proposed. Prenatal diagnosis is possible with fetal
428:
1412:, sold under the trade name Neulasta, may be used as a slow-acting alternative, requiring less frequent dosing.
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Takamatsu, Yasushi; Jimi, Shiro; Sato, Tomohito; Hara, Shuuji; Suzumiya, Junji; Tamura, Kazuo (January 2007).
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1991:
von Gierke, E. (1929). "Hepato-nephromegalia glykogenica (Glykogenspeicherkrankheit der Leber und Nieren)".
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and other organs of the body. Glycogenolysis can supply the glucose needs of an adult body for 12–18 hours.
520:
of approximately 1 in 100,000 births in the
American population, and approximately 1 in 20,000 births among
4242:
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1950:
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2643:"Chronic kidney disease associated with decreased bone mineral density, uric acid and metabolic syndrome"
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and attendant risk of gout or kidney damage, caused by low serum insulin levels in prolonged hypoglycemia
152:
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Jun, Hyun Sik; Weinstein, David A.; Lee, Young Mok; Mansfield, Brian C.; Chou, Janice Y. (2014-05-01).
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901:. The G6P remains within the liver cell unless the phosphate is cleaved by glucose-6-phosphatase. This
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resulting from recurrent, severe hypoglycemia is considered preventable with appropriate treatment.
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Genetics Home
Reference from U.S. National Library of Medicine & National Institutes of Health
750:
is not an intrinsic effect of GSD I, but is common if the diagnosis is not made in early infancy.
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2345:"Different effects of granulocyte colony-stimulating factor and erythropoietin on erythropoiesis"
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life, often causing the abdomen to protrude, and in severe cases may be palpable at or below the
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common to both GSD Ia and GSD Ib and most often prompts initial diagnosis of the disease. During
275:
213:
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The kidneys are usually 10 to 20% enlarged with stored glycogen. In adults with GSD I, chronic
1287:
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1078:
High levels of lactic acid in the blood are observed in all people with GSD I, due to impaired
609:
292:
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Additional problems reported in adolescents and adults with GSD I have included hyperuricemic
961:. Amino acids and lactic acid are used to synthesize new G6P in liver cells by the process of
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1254:. In GSD-related non-alcoholic fatty liver disease, hepatic function is usually spared, with
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501:; however, patients often still require treatment for frequent infections, and a chronically
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4290:
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occurs. Triglycerides above the 3.4 mmol/L (300 mg/dL) range may produce visible
1159:
1140:
998:
1222:
Impairment in the liver's ability to perform gluconeogenesis leads to clinically apparent
644:, due to increased carbohydrate intake causing frequent engagement of the insulin response
8:
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2502:"Regression of hepatic adenomas in type Ia glycogen storage disease with dietary therapy"
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2206:"Characterization and pathogenesis of anemia in glycogen storage disease type Ia and Ib"
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Minarich, Laurie A.; Kirpich, Alexander; Fiske, Laurie M.; Weinstein, David A. (2013).
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I can reach several times normal and serve as a clinical index of "metabolic control".
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2044:"Molecular mechanisms of neutrophil dysfunction in glycogen storage disease type Ib"
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Several different problems may lead to the diagnosis, usually by two years of age:
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protein and triglycerides from adipose tissue. The products of these processes are
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Labrune, P.; Trioche, P.; Duvaltier, I.; Chevalier, P.; Odièvre, M. (March 1997).
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Hepatomegaly with enlarged liver visible in red crosshairs and extending downward.
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Glycogen storage disease type I has an autosomal recessive pattern of inheritance.
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in GSD Ib, increased infection risk, due to neutropenia and neutrophil dysfunction
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impairment in the liver's ability to convert stored glycogen into glucose through
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throughout life, but severity often relates to the consumption of excess dietary
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stress, oxidative stress within the neutrophil, triggering premature apoptosis.
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When fasting continues for more than a few hours, falling insulin levels permit
582:, due to impairment of glycogenolysis causing glycogen accumulation in the liver
447:
and, over time, excess glycogen storage in the liver and (in some cases) in the
4232:
4186:
3999:
3929:
3748:
3325:
3309:
3192:
3129:
3078:
2262:
2011:
1979:
1974:
1637:
1633:
1450:
1343:
1144:
898:
883:
775:
734:. These gradual metabolic adaptations during infancy make severe symptoms like
719:
that can induce primary respiratory distress in the newborn period, as well as
566:
542:
521:
467:
322:
284:
3027:
2981:
2930:
2879:
2774:
2611:
2361:
1912:
1057:
results from a combination of increased generation and decreased excretion of
730:
reduced blood glucose level, the brain adapts to using alternative fuels like
4425:
4315:
4104:
4099:
3961:
3901:
3804:
3558:
3398:
2782:
2735:
2676:
2619:
2566:
2370:
2313:
2229:
2179:
2130:
2067:
1920:
1884:
1827:
1763:
1755:
1713:
1508:
1458:
1409:
1373:
1255:
1002:
811:
593:
248:
1689:
1479:
hyperventilation and apparent respiratory distress due to metabolic acidosis
4320:
4305:
4131:
3856:
3706:
3691:
3637:
3283:
3233:
3105:
2800:
2694:
2584:
2435:
2388:
2321:
2247:
2138:
2085:
2023:
1928:
1845:
1781:
1721:
1629:
1536:
1392:
1303:
1235:
1231:
1223:
1195:
1167:
1061:, which is generated when increased amounts of G6P are metabolized via the
1040:
990:
989:
The principal metabolic effects of deficiency of glucose-6-phosphatase are
879:
784:
771:
720:
712:
692:
648:
616:, suspected to be caused by blood glucose dysregulation in the presence of
575:
562:
502:
475:
455:
444:
342:
338:
2743:
2627:
2527:
2187:
1705:
4179:
4124:
4021:
3876:
3851:
3669:
3022:
3000:
2121:
2104:
1504:
1421:
1388:
1377:
1199:
1183:
1136:
950:
655:
to treat neutropenia causing sequestration of blood factors in the spleen
641:
599:
552:
490:
482:
349:
2558:
2221:
4267:
4152:
4119:
3891:
3841:
3826:
3821:
3814:
3799:
3789:
3570:
3430:
2831:
https://rarediseases.org/rare-diseases/glycogen-storage-disease-type-i/
1408:, can reduce the risk of infection. In some cases, G-CSF formulated as
1405:
1323:
1179:
1171:
958:
938:
930:
677:
663:
652:
551:'s ability to take up glucose, resulting in neutrophil dysfunction and
548:
498:
486:
471:
454:
Because of the glycogen buildup, GSD I patients typically present with
432:
375:
370:
359:
260:
256:
2913:
4340:
4082:
4077:
3941:
3919:
3794:
3758:
3229:
3011:
2819:
1540:
1430:
1426:
1259:
1126:
1110:
1095:
1087:
1058:
907:
894:
857:
845:
726:
1802:
Chou, Janice Y.; Jun, Hyun Sik; Mansfield, Brian C. (January 2010).
1738:
Kneeman, Jacob M.; Misdraji, Joseph; Corey, Kathleen E. (May 2012).
32:
3846:
3623:
3378:
3274:
3203:
1993:
1592:
and 20 mEq/L of K acetate can be substituted for the NaCl and KCl.
1544:
1310:
1275:
1239:
1102:
1030:
1026:
1012:
Map of effects in GSDIa from non-functioning glucose-6-phosphatase.
873:
Normal carbohydrate balance and maintenance of blood glucose levels
708:
638:
407:
252:
2708:
Czapek, Emily E.; Deykin, Daniel; Salzman, Edwin W. (1973-02-01).
1687:
4325:
3785:
3753:
3646:
3417:
3270:
3183:
3093:
2543:"Bone mineral density in glycogen storage disease type Ia and Ib"
1617:
1574:
1555:. Adherence becomes a contentious treatment issue after infancy.
1552:
1548:
1454:
1187:
1175:
1163:
1143:
and the accumulation of uric acid crystals in joints, leading to
1022:
942:
861:
853:
849:
829:
825:
818:
739:
696:
440:
436:
2959:
2956:
2488:
2473:
2151:
758:
3580:
3438:
3179:
2925:
2892:
1688:
Veiga-da-Cunha, M.; Gerin, I.; Van
Schaftingen, E. (May 2000).
1473:
seizures or other manifestations of severe fasting hypoglycemia
1415:
1283:
1131:
1066:
954:
934:
704:
673:
667:
627:
613:
448:
418:
676:, due to long-term use of filgrastim causing sequestration of
2540:
1391:
is a distinguishing feature of GSD Ib, absent in GSD Ia. The
1251:
1203:
923:
919:
700:
403:
505:
is a common side effect. GSD Ib patients often present with
3592:
3474:
3395:(Pompe's disease, glucosidase deficiency, formerly GSD-IIa)
2851:(24th ed.). Philadelphia: Elsevier Saunders. pp.
2263:"Ultragenyx DTX401 Phase 1/2 Cohort 2 Data Conference Call"
1625:
1148:
807:
2880:
GeneReview/NIH/UW entry on
Glycogen Storage Disease Type I
2710:"Platelet Dysfunction in Glycogen Storage Disease Type I"
1523:
requirement for a young child is 1.6 g/kg every 4 hours.
887:
788:
3506:(von Gierke's disease, glucose 6-phosphatase deficiency)
3351:(Hers' disease, liver glycogen phosphorylase deficiency)
3191:
2597:
2101:
2041:
1897:
1616:
Liver complications have been serious in some patients.
836:
Glucose-6-phosphatase is an enzyme located on the inner
2203:
1073:
953:. Free fatty acids from triglycerides are converted to
680:
in the spleen, potentially exacerbated by uncontrolled
2429:
2012:"Glycogen Storage Disease Type I (Von Gierke Disease)"
1861:
1740:"Secondary causes of nonalcoholic fatty liver disease"
1364:
effect of the use of filgrastim to treat neutropenia.
2285:
1539:
which must be converted to G6P to be utilized (e.g.,
3575:
Fatal congenital nonlysosomal cardiac glycogenosis (
2903:
1737:
1690:"How many forms of glycogen storage disease type I?"
1202:
is typically only mildly elevated compared to other
1154:
478:
are the principal treatment for all forms of GSD I.
2707:
2158:
Journal of
Pediatric Gastroenterology and Nutrition
1120:
1086:. Symptoms of lactic acidosis include vomiting and
57:. Unsourced material may be challenged and removed.
2342:
3450:(Tarui's disease, phosphofructokinase deficiency)
3300:(Andersen's disease, branching enzyme deficiency)
1804:"Neutropenia in type Ib glycogen storage disease"
4423:
3357:(McArdle's disease, myophosphorylase deficiency)
1801:
821:or "G6PT1", the glucose-6-phosphate transporter.
3345:(Cori's disease, debranching enzyme deficiency)
2757:Derks, Terry G. J.; van Rijn, Margreet (2015).
2425:
2423:
1955:NORD (National Organization for Rare Disorders)
660:abnormally low number of platelets in the blood
1990:
1648:information on long-term efficacy is limited.
1575:Treatment of acute metabolic acidosis episodes
817:GSD Ib results from mutations of the gene for
612:developing in adulthood and attendant risk of
569:(glycogenolysis) causing insufficient fasting
3608:
3055:
2756:
2009:
1558:
3527:Glucose-6-phosphate dehydrogenase deficiency
2420:
1797:
1795:
1793:
1791:
1530:
1416:Thrombocytopenia and blood clotting problems
524:. The disease was named after German doctor
3543:6-phosphogluconate dehydrogenase deficiency
2641:Pan, Bo-Lin; Loke, Song-Seng (2018-01-10).
2097:
2095:
864:(respectively) into and out of the enzyme.
470:, and other problems. Frequent feedings of
3897:Reproductive endocrinology and infertility
3615:
3601:
3062:
3048:
2010:Parikh, Nirzar S.; Ahlawat, Rajni (2019),
1671:, Mexican, Chinese, and Japanese descent.
1230:. GSD I patients present with a degree of
707:, maternal glucose transferred across the
666:causing sequestration of platelets in the
485:due to a dysfunction in the production of
431:. Because glycogenolysis is the principal
410:, which is necessary to maintain adequate
265:
221:Symbol for Glycogen Storage Disease Type I
4238:Bachelor of Medicine, Bachelor of Surgery
3475:Mitochondrial pyruvate carrier deficiency
2790:
2725:
2684:
2666:
2574:
2517:
2378:
2360:
2303:
2237:
2169:
2120:
2075:
1835:
1788:
1771:
1733:
1731:
1433:available in the bloodstream, leading to
1194:due to a reduced aqueous fraction of the
1101:As elevated lactate persists, uric acid,
179:Learn how and when to remove this message
117:Learn how and when to remove this message
4442:Inborn errors of carbohydrate metabolism
3144:Inborn errors of renal tubular transport
2824:
2092:
1744:Therapeutic Advances in Gastroenterology
1667:The disease is more common in people of
1476:hepatomegaly with abdominal protuberance
1440:
1213:
1007:
905:reaction produces free glucose and free
757:
417:GSD Ia is caused by a deficiency in the
2842:
2640:
2199:
2197:
1322:Patients with GSD I will often develop
695:(hypoglycemia) is the primary clinical
600:High levels of lactic acid in the blood
14:
4424:
2833:Nation Organization for Rare Disorders
2763:Journal of Inherited Metabolic Disease
2499:
1857:
1855:
1728:
1380:), but usually requires no treatment.
1372:Intestinal involvement can cause mild
810:for glucose-6-phosphatase, located on
435:mechanism by which the liver supplies
3596:
3043:
2836:
2489:Glycogen Storage Disease Ic - 232240
2260:
2003:
1402:Granulocyte colony-stimulating factor
795:when a fetus is known to be at risk.
594:High levels of uric acid in the blood
565:(hypoglycemia), due to impairment of
531:
4376:
4137:Physical medicine and rehabilitation
3454:Triosephosphate isomerase deficiency
3401:(LAMP2 deficiency, formerly GSD-IIb)
2807:
2474:Glycogen Storage Disease Ib - 232220
2194:
1595:
1355:indicated by elevated urinary eGFR.
1074:Elevated lactate and lactic acidosis
984:
146:research paper or scientific journal
128:
55:adding citations to reliable sources
26:
4386:
3468:Phosphoglucose isomerase deficiency
3369:(PGM1-CDG, CDG1T, formerly GSD-XIV)
2485:Online Mendelian Inheritance in Man
2470:Online Mendelian Inheritance in Man
2395:
1852:
1656:In the United States, GSD I has an
1269:
662:may occur, due to long-term use of
468:abnormally high lipids in the blood
406:from properly breaking down stored
24:
4273:Medical Scientist Training Program
3499:Fructose bisphosphatase deficiency
3471:Phosphoglycerate kinase deficiency
2873:
867:
606:, caused by prolonged hypoglycemia
528:, who first described it in 1929.
25:
4453:
3363:(phosphorylase kinase deficiency)
2885:
2403:"Glycogen storage disease type I"
1951:"Glycogen Storage Disease Type I"
1383:
1329:
1228:non-alcoholic fatty liver disease
1155:Hyperlipidemia and plasma effects
824:GSD Ic results from mutations of
802:GSD Ia results from mutations of
618:non-alcoholic fatty liver disease
580:non-alcoholic fatty liver disease
460:non-alcoholic fatty liver disease
443:, both deficiencies cause severe
289:non-alcoholic fatty liver disease
66:"Glycogen storage disease type I"
4405:
4395:
4385:
4375:
4366:
4365:
3393:Glycogen storage disease type II
2891:
2349:Stem Cell Research & Therapy
2305:10.1111/j.1537-2995.2007.01061.x
2171:10.1097/00005176-199703000-00008
1367:
1121:Elevated urate and complications
212:
133:
31:
18:Glucose-6-phosphatase deficiency
4406:
3494:Pyruvate carboxylase deficiency
3304:Adult polyglucosan body disease
3139:Glucose-galactose malabsorption
3028:Glycogen Storage Disease Type I
2898:Glycogen storage disease type I
2815:Glycogen-Storage Disease Type I
2750:
2701:
2634:
2591:
2534:
2493:
2478:
2463:
2336:
2279:
2261:David, Weinstein (2019-09-04).
2254:
2145:
2035:
1877:10.1182/blood.V118.21.4791.4791
1651:
1358:
1209:
1162:in GSD I result from low serum
687:
429:glucose-6-phosphate translocase
392:Glycogen storage disease type I
323:Autosomal recessive inheritance
42:needs additional citations for
4263:Doctor of Osteopathic Medicine
3697:Oral and maxillofacial surgery
3294:(glycogen synthase deficiency)
1984:
1967:
1943:
1901:European Journal of Pediatrics
1891:
1694:European Journal of Pediatrics
1681:
1174:, which is transported to the
651:, due to the long-term use of
602:, in extreme cases leading to
424:; GSD Ib, a deficiency in the
13:
1:
4432:Autosomal recessive disorders
3367:Phosphoglucomutase deficiency
1808:Current Opinion in Hematology
1674:
1642:atherosclerotic complications
1317:
547:in GSD Ib, impairment of the
512:It is the most common of the
481:GSD Ib also features chronic
233:/ˈglaɪkədʒən ˈstɔrədʒ dɪzˈiz/
4243:Bachelor of Medical Sciences
4010:Neurosurgical anesthesiology
3622:
3577:AMP-activated protein kinase
2668:10.1371/journal.pone.0190985
2519:10.1016/0016-5085(81)90606-5
2060:10.1182/blood-2013-05-502435
1820:10.1097/MOH.0b013e328331df85
1603:
1497:
1464:
1065:. It is also a byproduct of
882:and exported for storage in
7:
2727:10.1182/blood.V41.2.235.235
772:one copy of the faulty gene
753:
742:uncommon before diagnosis.
10:
4458:
3539:(Transketolase deficiency)
3459:Pyruvate kinase deficiency
1559:Other therapeutic measures
1353:glomerular hyperfiltration
1246:proper fetal development.
1170:, which is converted into
1025:levels and high levels of
682:inflammatory bowel disease
624:inflammatory bowel disease
507:inflammatory bowel disease
297:inflammatory bowel disease
4361:
4283:
4221:
3982:
3910:
3865:
3774:
3645:
3630:
3551:
3519:Pentose phosphate pathway
3517:
3484:
3429:
3416:
3376:
3333:
3324:
3282:
3269:
3227:
3201:
3178:
3128:
3104:
3092:
3085:glycogen storage diseases
2991:
2907:
2775:10.1007/s10545-015-9811-2
2612:10.3109/15513818509078791
2362:10.1186/s13287-018-0877-2
2018:, StatPearls Publishing,
1913:10.1007/s00431-002-1010-0
1531:Avoidance of other sugars
1511:, and the development of
1300:focal nodular hyperplasia
1063:pentose phosphate pathway
793:chorionic villus sampling
766:GSD I is inherited in an
514:glycogen storage diseases
381:
369:
355:
328:
318:
310:
302:
274:
242:
225:
220:
211:
201:
196:
4197:Transplantation medicine
4088:Clinical neurophysiology
4005:Obstetric anesthesiology
3925:Interventional radiology
3685:Digestive system surgery
3532:Transaldolase deficiency
2847:Goldman's Cecil Medicine
1756:10.1177/1756283X11430859
1292:hepatocellular carcinoma
385:1 in 100,000 live births
161:overly technical phrases
153:help improve the article
4068:Intensive care medicine
4042:Mass gathering medicine
3887:Maternal–fetal medicine
3317:(glycogenin deficiency)
3165:Fanconi-Bickel syndrome
3075:carbohydrate metabolism
1611:Intellectual disability
1178:where the synthesis of
783:has been made by fetal
3660:Cardiothoracic surgery
3154:Fructose malabsorption
2451:Cite journal requires
1509:uric acid in the blood
1404:(G-CSF), available as
1288:hepatocellular adenoma
1219:
1160:Elevated triglycerides
1013:
763:
626:and attendant risk of
293:hepatocellular adenoma
4311:Personalized medicine
4170:Reproductive medicine
4095:Occupational medicine
4049:Evolutionary medicine
3564:Primary hyperoxaluria
3464:Aldolase A deficiency
3214:Essential fructosuria
3081:metabolism disorders
2843:Goldman, Lee (2011).
2500:PARKER, PAUL (1981).
2267:edge.media-server.com
1706:10.1007/s004310051279
1441:Developmental effects
1425:bleeding, especially
1398:endoplasmic reticulum
1217:
1109:further increase the
1011:
848:is associated with a
842:endoplasmic reticulum
761:
464:excessive lactic acid
422:glucose-6-phosphatase
4331:Traditional medicine
4291:Alternative medicine
4158:Addiction psychiatry
3972:Transfusion medicine
3967:Medical microbiology
3882:Gynecologic oncology
3734:Reproductive surgery
3219:Fructose intolerance
3115:Congenital alactasia
2900:at Wikimedia Commons
2547:Genetics in Medicine
2210:Genetics in Medicine
2122:10.1038/gim.2014.128
2109:Genetics in Medicine
1376:with greasy stools (
1340:diabetic nephropathy
1282:is an adult, though
1048:Hypertriglyceridemia
999:hypertriglyceridemia
770:manner. People with
51:improve this article
4353:History of medicine
4336:Veterinary medicine
4143:Preventive medicine
3995:Adolescent medicine
3837:Infectious diseases
3120:Sucrose intolerance
2659:2018PLoSO..1390985P
2600:Pediatric Pathology
2559:10.1038/gim.2012.36
2222:10.1038/gim.2012.41
1907:(Suppl 1): S83–87.
1446:Developmental delay
1242:at a limited rate.
768:autosomal recessive
748:Developmental delay
439:to the body during
155:by rewriting it in
4301:Molecular oncology
4258:Doctor of Medicine
4248:Master of Medicine
4165:Radiation oncology
4037:Emergency medicine
3990:Addiction medicine
3957:Clinical chemistry
3952:Clinical pathology
3744:Transplant surgery
3702:Orthopedic surgery
3680:Colorectal surgery
3167:(GLUT2 deficiency)
3161:(GLUT1 deficiency)
2992:External resources
1457:insufficiency (or
1338:damage similar to
1220:
1192:pseudohyponatremia
1190:, and even a mild
1014:
781:Prenatal diagnosis
764:
567:glycogen breakdown
532:Signs and symptoms
412:blood sugar levels
402:that prevents the
206:von Gierke disease
157:encyclopedic style
144:is written like a
4419:
4418:
4253:Master of Surgery
4217:
4216:
4202:Tropical medicine
4148:Prison healthcare
4063:Hospital medicine
4027:Disaster medicine
4017:Aviation medicine
3832:Hospital medicine
3739:Surgical oncology
3724:Pediatric surgery
3718:
3665:Endocrine surgery
3590:
3589:
3513:
3512:
3477:(MPC1 deficiency)
3412:
3411:
3408:
3407:
3265:
3264:
3261:
3260:
3174:
3173:
3037:
3036:
2896:Media related to
2054:(18): 2843–2853.
1975:Gierke's syndrome
1662:newborn screening
1596:Metabolic control
903:dephosphorylation
426:transport protein
400:inherited disease
389:
388:
330:Diagnostic method
191:Medical condition
189:
188:
181:
127:
126:
119:
101:
16:(Redirected from
4449:
4409:
4408:
4399:
4389:
4388:
4379:
4378:
4369:
4368:
4073:Medical genetics
4058:General practice
3935:Nuclear medicine
3810:Gastroenterology
3766:Vascular surgery
3716:
3643:
3642:
3617:
3610:
3603:
3594:
3593:
3427:
3426:
3386:
3336:
3331:
3330:
3280:
3279:
3237:
3207:
3199:
3198:
3189:
3188:
3148:Renal glycosuria
3102:
3101:
3064:
3057:
3050:
3041:
3040:
2905:
2904:
2895:
2867:
2866:
2850:
2840:
2834:
2828:
2822:
2811:
2805:
2804:
2794:
2754:
2748:
2747:
2729:
2705:
2699:
2698:
2688:
2670:
2638:
2632:
2631:
2606:(2–4): 307–319.
2595:
2589:
2588:
2578:
2538:
2532:
2531:
2521:
2506:Gastroenterology
2497:
2491:
2482:
2476:
2467:
2461:
2460:
2454:
2449:
2447:
2439:
2427:
2418:
2417:
2415:
2413:
2399:
2393:
2392:
2382:
2364:
2340:
2334:
2333:
2307:
2283:
2277:
2276:
2274:
2273:
2258:
2252:
2251:
2241:
2201:
2192:
2191:
2173:
2149:
2143:
2142:
2124:
2099:
2090:
2089:
2079:
2039:
2033:
2032:
2031:
2030:
2007:
2001:
2000:
1999:. Jena: 497–513.
1988:
1982:
1971:
1965:
1964:
1962:
1961:
1947:
1941:
1940:
1895:
1889:
1888:
1859:
1850:
1849:
1839:
1799:
1786:
1785:
1775:
1735:
1726:
1725:
1685:
1669:Ashkenazi Jewish
1591:
1590:
1589:
1513:hepatic adenomas
1435:thrombocytopenia
1348:Fanconi syndrome
1270:Hepatic adenomas
1264:hepatic adenomas
1151:, respectively.
1107:free fatty acids
976:
975:
974:
947:free fatty acids
918:
916:
915:
610:hepatic adenomas
526:Edgar von Gierke
495:immunodeficiency
314:Type Ia, type Ib
270:
269:
216:
194:
193:
184:
177:
173:
170:
164:
137:
136:
129:
122:
115:
111:
108:
102:
100:
59:
35:
27:
21:
4457:
4456:
4452:
4451:
4450:
4448:
4447:
4446:
4422:
4421:
4420:
4415:
4357:
4346:Chief physician
4279:
4224:
4213:
4207:Travel medicine
4192:Sports medicine
4175:Sexual medicine
4115:Palliative care
4110:Pain management
4054:Family medicine
4032:Diving medicine
3978:
3906:
3868:
3861:
3777:
3770:
3729:Plastic surgery
3675:General surgery
3655:Cardiac surgery
3636:
3634:
3626:
3621:
3591:
3586:
3547:
3509:
3486:Gluconeogenesis
3480:
3404:
3377:
3372:
3335:Extralysosomal:
3334:
3320:
3257:
3253:GALE deficiency
3249:GALT deficiency
3244:GALK deficiency
3228:
3223:
3202:
3170:
3159:De Vivo Disease
3124:
3098:(extracellular)
3097:
3088:
3082:
3068:
3038:
3033:
3032:
2987:
2986:
2916:
2888:
2876:
2874:Further reading
2871:
2870:
2863:
2841:
2837:
2829:
2825:
2812:
2808:
2755:
2751:
2706:
2702:
2653:(1): e0190985.
2639:
2635:
2596:
2592:
2539:
2535:
2498:
2494:
2483:
2479:
2468:
2464:
2452:
2450:
2441:
2440:
2428:
2421:
2411:
2409:
2401:
2400:
2396:
2341:
2337:
2284:
2280:
2271:
2269:
2259:
2255:
2202:
2195:
2150:
2146:
2100:
2093:
2040:
2036:
2028:
2026:
2008:
2004:
1989:
1985:
1972:
1968:
1959:
1957:
1949:
1948:
1944:
1896:
1892:
1860:
1853:
1800:
1789:
1736:
1729:
1686:
1682:
1677:
1654:
1606:
1598:
1588:
1585:
1584:
1583:
1581:
1577:
1561:
1533:
1500:
1467:
1443:
1418:
1393:microbiological
1386:
1370:
1361:
1332:
1320:
1304:Mallory hyaline
1272:
1212:
1157:
1125:High levels of
1123:
1092:gastroenteritis
1084:lactic acidosis
1080:gluconeogenesis
1076:
1037:Lactic acidosis
995:lactic acidosis
987:
985:Pathophysiology
973:
970:
969:
968:
966:
963:gluconeogenesis
914:
911:
910:
909:
906:
875:
870:
868:Pathophysiology
756:
736:unconsciousness
717:lactic acidosis
703:development in
693:Low blood sugar
690:
604:lactic acidosis
563:Low blood sugar
534:
516:. GSD I has an
503:enlarged spleen
456:enlarged livers
335:Genetic testing
281:Lactic acidosis
264:
238:
192:
185:
174:
168:
165:
150:
138:
134:
123:
112:
106:
103:
60:
58:
48:
36:
23:
22:
15:
12:
11:
5:
4455:
4445:
4444:
4439:
4434:
4417:
4416:
4414:
4413:
4403:
4393:
4383:
4373:
4362:
4359:
4358:
4356:
4355:
4350:
4349:
4348:
4338:
4333:
4328:
4323:
4318:
4313:
4308:
4303:
4298:
4293:
4287:
4285:
4284:Related topics
4281:
4280:
4278:
4277:
4276:
4275:
4265:
4260:
4255:
4250:
4245:
4240:
4235:
4233:Medical school
4229:
4227:
4219:
4218:
4215:
4214:
4212:
4211:
4210:
4209:
4199:
4194:
4189:
4187:Sleep medicine
4184:
4183:
4182:
4172:
4167:
4162:
4161:
4160:
4150:
4145:
4140:
4134:
4129:
4128:
4127:
4117:
4112:
4107:
4102:
4097:
4092:
4091:
4090:
4080:
4075:
4070:
4065:
4060:
4051:
4046:
4045:
4044:
4034:
4029:
4024:
4019:
4014:
4013:
4012:
4007:
4000:Anesthesiology
3997:
3992:
3986:
3984:
3980:
3979:
3977:
3976:
3975:
3974:
3969:
3964:
3959:
3954:
3949:
3939:
3938:
3937:
3932:
3930:Neuroradiology
3927:
3916:
3914:
3908:
3907:
3905:
3904:
3899:
3894:
3889:
3884:
3879:
3873:
3871:
3867:Obstetrics and
3863:
3862:
3860:
3859:
3854:
3849:
3844:
3839:
3834:
3829:
3824:
3819:
3818:
3817:
3807:
3802:
3797:
3792:
3782:
3780:
3772:
3771:
3769:
3768:
3763:
3762:
3761:
3751:
3749:Trauma surgery
3746:
3741:
3736:
3731:
3726:
3721:
3720:
3719:
3712:Otolaryngology
3709:
3704:
3699:
3694:
3689:
3688:
3687:
3682:
3672:
3667:
3662:
3657:
3651:
3649:
3640:
3638:subspecialties
3628:
3627:
3620:
3619:
3612:
3605:
3597:
3588:
3587:
3585:
3584:
3573:
3568:
3567:
3566:
3555:
3553:
3549:
3548:
3546:
3545:
3540:
3534:
3529:
3523:
3521:
3515:
3514:
3511:
3510:
3508:
3507:
3501:
3496:
3490:
3488:
3482:
3481:
3479:
3478:
3472:
3469:
3466:
3461:
3456:
3451:
3445:
3435:
3433:
3424:
3414:
3413:
3410:
3409:
3406:
3405:
3403:
3402:
3396:
3389:
3387:
3374:
3373:
3371:
3370:
3364:
3358:
3352:
3346:
3339:
3337:
3328:
3326:Glycogenolysis
3322:
3321:
3319:
3318:
3312:
3310:Lafora disease
3307:
3301:
3295:
3288:
3286:
3277:
3267:
3266:
3263:
3262:
3259:
3258:
3256:
3255:
3246:
3240:
3238:
3225:
3224:
3222:
3221:
3216:
3210:
3208:
3196:
3193:Monosaccharide
3186:
3176:
3175:
3172:
3171:
3169:
3168:
3162:
3156:
3151:
3141:
3135:
3133:
3130:Monosaccharide
3126:
3125:
3123:
3122:
3117:
3111:
3109:
3099:
3090:
3089:
3079:monosaccharide
3067:
3066:
3059:
3052:
3044:
3035:
3034:
3031:
3030:
3019:
3008:
2996:
2995:
2993:
2989:
2988:
2985:
2984:
2973:
2962:
2948:
2933:
2917:
2912:
2911:
2909:
2908:Classification
2902:
2901:
2887:
2886:External links
2884:
2883:
2882:
2875:
2872:
2869:
2868:
2862:978-1437727883
2861:
2835:
2823:
2806:
2769:(3): 537–543.
2749:
2720:(2): 235–247.
2700:
2633:
2590:
2553:(8): 737–741.
2533:
2512:(3): 534–536.
2492:
2477:
2462:
2453:|journal=
2419:
2394:
2335:
2278:
2253:
2216:(9): 795–799.
2193:
2164:(3): 276–279.
2144:
2091:
2034:
2002:
1983:
1966:
1942:
1890:
1851:
1787:
1750:(3): 199–207.
1727:
1700:(5): 314–318.
1679:
1678:
1676:
1673:
1653:
1650:
1644:are uncommon.
1638:hyperlipidemia
1634:kidney failure
1632:, and chronic
1605:
1602:
1597:
1594:
1586:
1576:
1573:
1560:
1557:
1532:
1529:
1499:
1496:
1484:
1483:
1480:
1477:
1474:
1466:
1463:
1451:growth failure
1442:
1439:
1417:
1414:
1385:
1384:Infection risk
1382:
1369:
1366:
1360:
1357:
1344:kidney failure
1331:
1330:Kidney effects
1328:
1319:
1316:
1271:
1268:
1211:
1208:
1156:
1153:
1145:kidney disease
1122:
1119:
1075:
1072:
986:
983:
971:
912:
899:glycogenolysis
884:adipose tissue
874:
871:
869:
866:
846:catalytic unit
834:
833:
822:
815:
812:chromosome 17q
755:
752:
689:
686:
685:
684:
670:
658:in GSD Ib, an
656:
645:
632:
631:
620:
607:
597:
587:
586:
583:
573:
556:
555:
545:
543:glycogenolysis
533:
530:
522:Ashkenazi Jews
387:
386:
383:
379:
378:
373:
367:
366:
357:
353:
352:
332:
326:
325:
320:
316:
315:
312:
308:
307:
304:
300:
299:
285:hyperlipidemia
278:
272:
271:
246:
240:
239:
237:
236:
229:
227:
223:
222:
218:
217:
209:
208:
203:
199:
198:
190:
187:
186:
141:
139:
132:
125:
124:
39:
37:
30:
9:
6:
4:
3:
2:
4454:
4443:
4440:
4438:
4435:
4433:
4430:
4429:
4427:
4412:
4404:
4402:
4398:
4394:
4392:
4384:
4382:
4374:
4372:
4364:
4363:
4360:
4354:
4351:
4347:
4344:
4343:
4342:
4339:
4337:
4334:
4332:
4329:
4327:
4324:
4322:
4319:
4317:
4316:Public health
4314:
4312:
4309:
4307:
4304:
4302:
4299:
4297:
4296:Allied health
4294:
4292:
4289:
4288:
4286:
4282:
4274:
4271:
4270:
4269:
4266:
4264:
4261:
4259:
4256:
4254:
4251:
4249:
4246:
4244:
4241:
4239:
4236:
4234:
4231:
4230:
4228:
4226:
4220:
4208:
4205:
4204:
4203:
4200:
4198:
4195:
4193:
4190:
4188:
4185:
4181:
4178:
4177:
4176:
4173:
4171:
4168:
4166:
4163:
4159:
4156:
4155:
4154:
4151:
4149:
4146:
4144:
4141:
4138:
4135:
4133:
4130:
4126:
4123:
4122:
4121:
4118:
4116:
4113:
4111:
4108:
4106:
4105:Oral medicine
4103:
4101:
4100:Ophthalmology
4098:
4096:
4093:
4089:
4086:
4085:
4084:
4081:
4079:
4076:
4074:
4071:
4069:
4066:
4064:
4061:
4059:
4055:
4052:
4050:
4047:
4043:
4040:
4039:
4038:
4035:
4033:
4030:
4028:
4025:
4023:
4020:
4018:
4015:
4011:
4008:
4006:
4003:
4002:
4001:
3998:
3996:
3993:
3991:
3988:
3987:
3985:
3981:
3973:
3970:
3968:
3965:
3963:
3962:Cytopathology
3960:
3958:
3955:
3953:
3950:
3948:
3945:
3944:
3943:
3940:
3936:
3933:
3931:
3928:
3926:
3923:
3922:
3921:
3918:
3917:
3915:
3913:
3909:
3903:
3902:Urogynecology
3900:
3898:
3895:
3893:
3890:
3888:
3885:
3883:
3880:
3878:
3875:
3874:
3872:
3870:
3864:
3858:
3855:
3853:
3850:
3848:
3845:
3843:
3840:
3838:
3835:
3833:
3830:
3828:
3825:
3823:
3820:
3816:
3813:
3812:
3811:
3808:
3806:
3805:Endocrinology
3803:
3801:
3798:
3796:
3793:
3791:
3787:
3784:
3783:
3781:
3779:
3773:
3767:
3764:
3760:
3757:
3756:
3755:
3752:
3750:
3747:
3745:
3742:
3740:
3737:
3735:
3732:
3730:
3727:
3725:
3722:
3715:
3714:
3713:
3710:
3708:
3705:
3703:
3700:
3698:
3695:
3693:
3690:
3686:
3683:
3681:
3678:
3677:
3676:
3673:
3671:
3668:
3666:
3663:
3661:
3658:
3656:
3653:
3652:
3650:
3648:
3644:
3641:
3639:
3633:
3629:
3625:
3618:
3613:
3611:
3606:
3604:
3599:
3598:
3595:
3582:
3578:
3574:
3572:
3569:
3565:
3562:
3561:
3560:
3559:Hyperoxaluria
3557:
3556:
3554:
3550:
3544:
3541:
3538:
3535:
3533:
3530:
3528:
3525:
3524:
3522:
3520:
3516:
3505:
3502:
3500:
3497:
3495:
3492:
3491:
3489:
3487:
3483:
3476:
3473:
3470:
3467:
3465:
3462:
3460:
3457:
3455:
3452:
3449:
3446:
3444:
3440:
3437:
3436:
3434:
3432:
3428:
3425:
3423:
3419:
3415:
3400:
3399:Danon disease
3397:
3394:
3391:
3390:
3388:
3384:
3380:
3375:
3368:
3365:
3362:
3359:
3356:
3353:
3350:
3347:
3344:
3341:
3340:
3338:
3332:
3329:
3327:
3323:
3316:
3313:
3311:
3308:
3305:
3302:
3299:
3296:
3293:
3290:
3289:
3287:
3285:
3281:
3278:
3276:
3272:
3268:
3254:
3250:
3247:
3245:
3242:
3241:
3239:
3235:
3231:
3226:
3220:
3217:
3215:
3212:
3211:
3209:
3205:
3200:
3197:
3194:
3190:
3187:
3185:
3181:
3177:
3166:
3163:
3160:
3157:
3155:
3152:
3149:
3145:
3142:
3140:
3137:
3136:
3134:
3131:
3127:
3121:
3118:
3116:
3113:
3112:
3110:
3107:
3103:
3100:
3095:
3091:
3086:
3080:
3076:
3072:
3065:
3060:
3058:
3053:
3051:
3046:
3045:
3042:
3029:
3025:
3024:
3020:
3018:
3014:
3013:
3009:
3007:
3003:
3002:
2998:
2997:
2994:
2990:
2983:
2979:
2978:
2974:
2972:
2968:
2967:
2963:
2961:
2958:
2954:
2953:
2949:
2947:
2943:
2942:
2938:
2934:
2932:
2928:
2927:
2923:
2919:
2918:
2915:
2910:
2906:
2899:
2894:
2890:
2889:
2881:
2878:
2877:
2864:
2858:
2854:
2849:
2848:
2839:
2832:
2827:
2821:
2817:
2816:
2810:
2802:
2798:
2793:
2788:
2784:
2780:
2776:
2772:
2768:
2764:
2760:
2753:
2745:
2741:
2737:
2733:
2728:
2723:
2719:
2715:
2711:
2704:
2696:
2692:
2687:
2682:
2678:
2674:
2669:
2664:
2660:
2656:
2652:
2648:
2644:
2637:
2629:
2625:
2621:
2617:
2613:
2609:
2605:
2601:
2594:
2586:
2582:
2577:
2572:
2568:
2564:
2560:
2556:
2552:
2548:
2544:
2537:
2529:
2525:
2520:
2515:
2511:
2507:
2503:
2496:
2490:
2486:
2481:
2475:
2471:
2466:
2458:
2445:
2437:
2433:
2426:
2424:
2408:
2404:
2398:
2390:
2386:
2381:
2376:
2372:
2368:
2363:
2358:
2354:
2350:
2346:
2339:
2331:
2327:
2323:
2319:
2315:
2311:
2306:
2301:
2297:
2293:
2289:
2282:
2268:
2264:
2257:
2249:
2245:
2240:
2235:
2231:
2227:
2223:
2219:
2215:
2211:
2207:
2200:
2198:
2189:
2185:
2181:
2177:
2172:
2167:
2163:
2159:
2155:
2148:
2140:
2136:
2132:
2128:
2123:
2118:
2114:
2110:
2106:
2098:
2096:
2087:
2083:
2078:
2073:
2069:
2065:
2061:
2057:
2053:
2049:
2045:
2038:
2025:
2021:
2017:
2013:
2006:
1998:
1994:
1987:
1981:
1980:Who Named It?
1977:
1976:
1970:
1956:
1952:
1946:
1938:
1934:
1930:
1926:
1922:
1918:
1914:
1910:
1906:
1902:
1894:
1886:
1882:
1878:
1874:
1870:
1866:
1858:
1856:
1847:
1843:
1838:
1833:
1829:
1825:
1821:
1817:
1813:
1809:
1805:
1798:
1796:
1794:
1792:
1783:
1779:
1774:
1769:
1765:
1761:
1757:
1753:
1749:
1745:
1741:
1734:
1732:
1723:
1719:
1715:
1711:
1707:
1703:
1699:
1695:
1691:
1684:
1680:
1672:
1670:
1665:
1663:
1659:
1649:
1645:
1643:
1639:
1635:
1631:
1627:
1622:
1619:
1614:
1612:
1601:
1593:
1572:
1568:
1564:
1556:
1554:
1550:
1546:
1542:
1538:
1537:carbohydrates
1528:
1524:
1520:
1516:
1514:
1510:
1506:
1495:
1492:
1488:
1481:
1478:
1475:
1472:
1471:
1470:
1462:
1460:
1459:malabsorption
1456:
1452:
1447:
1438:
1436:
1432:
1428:
1423:
1413:
1411:
1410:pegfilgrastim
1407:
1403:
1399:
1394:
1390:
1381:
1379:
1375:
1374:malabsorption
1368:Bowel effects
1365:
1356:
1354:
1349:
1345:
1341:
1337:
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1307:
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1301:
1296:
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1277:
1274:The specific
1267:
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1256:liver enzymes
1253:
1247:
1243:
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1207:
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1141:kidney stones
1138:
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1099:
1097:
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1064:
1060:
1056:
1055:Hyperuricemia
1052:
1049:
1045:
1042:
1038:
1034:
1032:
1028:
1024:
1019:
1010:
1006:
1004:
1003:hyperuricemia
1000:
996:
992:
982:
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964:
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936:
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927:
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880:triglycerides
865:
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621:
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608:
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584:
581:
577:
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571:blood glucose
568:
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560:
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554:
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546:
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539:
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529:
527:
523:
519:
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510:
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488:
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479:
477:
476:carbohydrates
473:
469:
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298:
294:
290:
286:
282:
279:
277:
276:Complications
273:
268:
262:
258:
254:
250:
249:Endocrinology
247:
245:
241:
234:
231:
230:
228:
226:Pronunciation
224:
219:
215:
210:
207:
204:
200:
195:
183:
180:
172:
162:
159:and simplify
158:
154:
148:
147:
142:This article
140:
131:
130:
121:
118:
110:
107:February 2009
99:
96:
92:
89:
85:
82:
78:
75:
71:
68: –
67:
63:
62:Find sources:
56:
52:
46:
45:
40:This article
38:
34:
29:
28:
19:
4321:Rural health
4306:Nanomedicine
3857:Rheumatology
3788: /
3707:Hand surgery
3692:Neurosurgery
3579:deficiency,
3503:
3448:GSD type VII
3343:GSD type III
3284:Glycogenesis
3234:galactosemia
3106:Disaccharide
3071:Inborn error
3021:
3010:
2999:
2975:
2964:
2950:
2935:
2920:
2846:
2838:
2826:
2813:
2809:
2766:
2762:
2752:
2717:
2713:
2703:
2650:
2646:
2636:
2603:
2599:
2593:
2550:
2546:
2536:
2509:
2505:
2495:
2480:
2465:
2444:cite journal
2410:. Retrieved
2406:
2397:
2352:
2348:
2338:
2298:(1): 41–49.
2295:
2291:
2281:
2270:. Retrieved
2266:
2256:
2213:
2209:
2161:
2157:
2147:
2112:
2108:
2051:
2047:
2037:
2027:, retrieved
2015:
2005:
1996:
1992:
1986:
1973:
1969:
1958:. Retrieved
1954:
1945:
1904:
1900:
1893:
1871:(21): 4791.
1868:
1864:
1814:(1): 36–42.
1811:
1807:
1747:
1743:
1697:
1693:
1683:
1666:
1655:
1652:Epidemiology
1646:
1630:pancreatitis
1623:
1615:
1607:
1599:
1578:
1569:
1565:
1562:
1534:
1525:
1521:
1517:
1501:
1493:
1489:
1485:
1468:
1444:
1419:
1387:
1371:
1362:
1359:Splenomegaly
1342:may lead to
1333:
1321:
1308:
1297:
1273:
1248:
1244:
1236:carbohydrate
1232:hepatomegaly
1224:hepatomegaly
1221:
1210:Hepatomegaly
1198:. In GSD I,
1196:blood plasma
1158:
1124:
1100:
1077:
1054:
1053:
1047:
1046:
1041:pyruvic acid
1036:
1035:
1018:hypoglycemia
1017:
1015:
991:hypoglycemia
988:
979:
928:
892:
876:
835:
803:
797:
791:obtained by
785:liver biopsy
765:
744:
727:Neurological
725:
721:ketoacidosis
713:hypoglycemia
691:
688:Hypoglycemia
649:splenomegaly
633:
588:
576:hepatomegaly
557:
535:
511:
480:
453:
445:hypoglycemia
416:
395:
391:
390:
345:
343:hepatomegaly
339:hypoglycemia
205:
175:
166:
143:
113:
104:
94:
87:
80:
73:
61:
49:Please help
44:verification
41:
4391:Wikiproject
4180:Venereology
4125:Neonatology
4022:Dermatology
3877:Gynaecology
3869:gynaecology
3852:Pulmonology
3670:Eye surgery
3632:Specialties
3361:GSD type IX
3349:GSD type VI
3315:GSD type XV
3298:GSD type IV
3096:, transport
3023:GeneReviews
3001:MedlinePlus
2292:Transfusion
1505:lactic acid
1422:prothrombin
1389:Neutropenia
1378:steatorrhea
1200:cholesterol
1184:cholesterol
1180:fatty acids
1137:allopurinol
951:lactic acid
939:amino acids
672:in GSD Ib,
647:in GSD Ib,
642:hypertrophy
622:in GSD Ib,
553:neutropenia
491:bone marrow
487:neutrophils
483:neutropenia
350:neutropenia
202:Other names
4437:Hepatology
4426:Categories
4153:Psychiatry
4139:(PM&R)
4132:Phlebology
4120:Pediatrics
3947:Anatomical
3912:Diagnostic
3892:Obstetrics
3842:Nephrology
3827:Hematology
3822:Geriatrics
3815:Hepatology
3800:Cardiology
3790:Immunology
3571:Pentosuria
3504:GSD type I
3431:Glycolysis
3355:GSD type V
3292:GSD type 0
3195:catabolism
3108:catabolism
3083:Including
2977:DiseasesDB
2355:(1): 119.
2272:2019-10-30
2115:(11): e1.
2029:2019-11-01
2016:StatPearls
1960:2019-09-29
1675:References
1636:. Despite
1535:Intake of
1406:filgrastim
1336:glomerular
1324:osteopenia
1318:Osteopenia
1172:Acetyl-CoA
1115:quadriceps
959:acetyl-CoA
931:catabolism
678:hemoglobin
664:filgrastim
653:filgrastim
639:pancreatic
549:neutrophil
499:filgrastim
472:cornstarch
376:Filgrastim
371:Medication
360:Cornstarch
261:immunology
257:hematology
197:GSD Type I
169:April 2020
77:newspapers
4341:Physician
4225:education
4083:Neurology
4078:Narcology
3942:Pathology
3920:Radiology
3795:Angiology
3759:Andrology
3379:Lysosomal
3230:Galactose
3132:transport
3012:eMedicine
2820:eMedicine
2783:0141-8955
2736:0006-4971
2677:1932-6203
2620:0277-0938
2567:1098-3600
2371:1757-6512
2314:0041-1132
2230:1098-3600
2180:0277-2116
2131:1530-0366
2068:0006-4971
1921:0340-6199
1899:Type 1".
1885:0006-4971
1828:1065-6251
1764:1756-283X
1714:0340-6199
1658:incidence
1604:Prognosis
1567:lactate.
1541:galactose
1498:Treatment
1465:Diagnosis
1431:platelets
1427:epistaxis
1260:bilirubin
1127:uric acid
1111:anion gap
1103:ketoacids
1096:pneumonia
1088:hyperpnea
1059:uric acid
957:, and to
895:digestion
858:phosphate
711:prevents
518:incidence
474:or other
433:metabolic
382:Frequency
356:Treatment
244:Specialty
4371:Category
3847:Oncology
3778:medicine
3776:Internal
3624:Medicine
3275:glycogen
3204:Fructose
3017:ped/2416
2801:25633903
2695:29320555
2647:PLOS ONE
2585:22481133
2487:(OMIM):
2472:(OMIM):
2436:20301489
2389:29720275
2330:36128181
2322:17207228
2248:22678084
2139:25356975
2086:24565827
2024:30480935
1937:33840498
1929:12373578
1846:19741523
1782:22570680
1722:10834514
1618:Adenomas
1545:fructose
1311:glucagon
1276:etiology
1240:glycogen
1168:pyruvate
1031:cortisol
1027:glucagon
941:(mainly
852:binding
838:membrane
776:carriers
754:Genetics
709:placenta
408:glycogen
398:) is an
306:Lifetime
303:Duration
253:genetics
4411:Outline
4381:Commons
4326:Therapy
4223:Medical
3786:Allergy
3754:Urology
3647:Surgery
3418:Glucose
3271:Glucose
3184:glucose
3094:Sucrose
2971:D005953
2792:4432100
2744:4350560
2686:5761949
2655:Bibcode
2628:3867867
2576:3884026
2528:6941908
2380:5930863
2239:3808879
2188:9138172
2077:4007611
1837:3099242
1773:3342568
1553:lactose
1549:sucrose
1455:calorie
1284:lesions
1280:adenoma
1188:lipemia
1176:cytosol
1164:insulin
1023:insulin
955:ketones
943:alanine
862:glucose
854:protein
850:calcium
840:of the
830:SLC37A4
826:SLC17A3
819:SLC37A4
740:seizure
732:lactate
697:symptom
493:. This
489:in the
449:kidneys
441:fasting
437:glucose
346:Type Ib
151:Please
91:scholar
4401:Portal
4268:MD–PhD
3581:PRKAG2
3439:MODY 2
3306:(APBD)
3180:Hexose
3006:000338
2960:232240
2957:232200
2859:
2799:
2789:
2781:
2742:
2734:
2693:
2683:
2675:
2626:
2618:
2583:
2573:
2565:
2526:
2434:
2412:6 July
2387:
2377:
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2328:
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2312:
2246:
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2186:
2178:
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2074:
2066:
2022:
1935:
1927:
1919:
1883:
1844:
1834:
1826:
1780:
1770:
1762:
1720:
1712:
1204:lipids
1132:purine
1105:, and
1067:purine
1001:, and
949:, and
935:muscle
920:anions
860:, and
844:. The
806:, the
674:anemia
668:spleen
628:anemia
614:anemia
466:, and
419:enzyme
319:Causes
263:
235:
93:
86:
79:
72:
64:
3983:Other
3552:Other
3537:SDDHD
3087:(GSD)
2946:271.0
2931:E74.0
2714:Blood
2326:S2CID
2048:Blood
1933:S2CID
1865:Blood
1582:NaHCO
1290:into
1252:navel
924:brain
893:When
705:utero
701:fetal
458:from
404:liver
396:GSD I
311:Types
98:JSTOR
84:books
3443:HHF3
2982:5284
2966:MeSH
2952:OMIM
2941:9-CM
2857:ISBN
2853:1356
2797:PMID
2779:ISSN
2740:PMID
2732:ISSN
2691:PMID
2673:ISSN
2624:PMID
2616:ISSN
2581:PMID
2563:ISSN
2524:PMID
2457:help
2432:PMID
2414:2013
2385:PMID
2367:ISSN
2318:PMID
2310:ISSN
2244:PMID
2226:ISSN
2184:PMID
2176:ISSN
2135:PMID
2127:ISSN
2082:PMID
2064:ISSN
2020:PMID
1925:PMID
1917:ISSN
1881:ISSN
1842:PMID
1824:ISSN
1778:PMID
1760:ISSN
1718:PMID
1710:ISSN
1626:gout
1543:and
1507:and
1258:and
1182:and
1149:gout
1147:and
1029:and
1016:The
808:gene
804:G6PC
774:are
364:diet
70:news
3717:ENT
3635:and
3422:CAC
3383:LSD
3073:of
2937:ICD
2922:ICD
2818:at
2787:PMC
2771:doi
2722:doi
2681:PMC
2663:doi
2608:doi
2571:PMC
2555:doi
2514:doi
2375:PMC
2357:doi
2300:doi
2234:PMC
2218:doi
2166:doi
2117:doi
2072:PMC
2056:doi
2052:123
1978:at
1909:doi
1905:161
1873:doi
1869:118
1832:PMC
1816:doi
1768:PMC
1752:doi
1702:doi
1698:159
1551:or
1094:or
945:),
933:of
888:fat
886:as
828:or
814:21.
789:DNA
738:or
578:of
53:by
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4056:/
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3273:⇄
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