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1173:, and an inability to sleep for more than a few hours at a time. This disorder tends to have three main stages. During the first stage, early mental and motor skill development may be somewhat delayed. Affected children show a marked decline in learning between ages 2 and 6, followed by eventual loss of language skills and loss of some or all hearing. Some children may never learn to speak. In the syndrome's second stage, aggressive behavior, hyperactivity, profound dementia, and irregular sleep may make children difficult to manage, particularly those who retain normal physical strength. In the syndrome's last stage, children become increasingly unsteady on their feet and most are unable to walk by age 10.
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1276:, in which extreme amounts of fluid are retained in the body. Survival is usually a few months or less. Most children with Sly syndrome are less severely affected. Neurological symptoms may include mild to moderate intellectual disability by age 3, communicating hydrocephalus, nerve entrapment, corneal clouding, and some loss of peripheral and night vision. Other symptoms include short stature, some skeletal irregularities, joint stiffness and restricted movement, and umbilical and/or inguinal hernias. Some patients may have repeated bouts of pneumonia during their first years of life. Most children with Sly syndrome live into the teenage or young adult years.
1121:, is less severe than Hurler syndrome alone. Symptoms generally begin between ages 3 and 8. Children may have moderate intellectual disability and learning difficulties. Skeletal and systemic irregularities include short stature, marked smallness in the jaws, progressive joint stiffness, compressed spinal cord, clouded corneas, hearing loss, heart disease, coarse facial features, and umbilical hernia. Respiratory problems, sleep apnea, and heart disease may develop in adolescence. Some persons with MPS I H-S need continuous positive airway pressure during sleep to ease breathing. Life expectancy is generally into the late teens or early twenties.
1223:, is estimated to occur in 1 in 700,000 births. Its two subtypes result from the missing or deficient enzymes N-acetylgalactosamine-6-sulfatase (GALNS) (Type A) or beta-galactosidase (Type B) needed to break down the keratan sulfate sugar chain. Clinical features are similar in both types but appear milder in Morquio Type B. Onset is between ages 1 and 3. Neurological complications include spinal nerve and nerve root compression resulting from extreme, progressive skeletal changes, particularly in the ribs and chest; conductive and/or neurosensitive loss of hearing and clouded corneas. Intelligence is normal unless
370:, meaning that only individuals inheriting the defective gene from both parents are affected. (The exception is MPS II, or Hunter syndrome, in which the mother alone passes along the defective gene to a son.) When both people in a couple have the defective gene, each pregnancy carries with it a one in four chance that the child will be affected. The parents and siblings of an affected child may have no sign of the disorder. Unaffected siblings and select relatives of a child with one of the mucopolysaccharidoses may carry the recessive gene and could pass it to their own children.
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1088:(where the umbilical cord passes through the abdomen) hernias. Growth in height may be faster than normal but begins to slow before the end of the first year and often ends around age 3. Many children develop a short body trunk and a maximum stature of less than 4 feet. Distinct facial features (including flat face, depressed nasal bridge, and bulging forehead) become more evident in the second year. By age 2, the ribs have widened and are oar-shaped. The
22:
1324:. Sleep studies can assess airway status and the possible need for nighttime oxygen. Some patients may require surgical insertion of an endotrachial tube to aid breathing. Surgery can also correct hernias, help drain excessive cerebrospinal fluid from the brain, and free nerves and nerve roots compressed by skeletal and other abnormalities. Corneal transplants may improve vision among patients with significant corneal clouding.
358:
1114:, retinal degeneration, and clouded corneas may significantly impair vision. Other problems include carpal tunnel syndrome or other nerve compression, stiff joints, claw hands and deformed feet, a short neck, and aortic valve disease. Some affected individuals also have obstructive airway disease and sleep apnea. Persons with Scheie syndrome can live into adulthood.
349:(another principal component of living cells) are stored, in addition to sugars. Persons with mucolipidosis may share some of the clinical features associated with the mucopolysaccharidoses (certain facial features, bony structure abnormalities, and damage to the brain), and increased amounts of the enzymes needed to break down the lipids are found in the blood.
1252:. Caused by the deficient enzyme N-acetylgalactosamine 4-sulfatase, Maroteaux-Lamy syndrome has a variable spectrum of severe symptoms. Neurological complications include clouded corneas, deafness, thickening of the dura (the membrane that surrounds and protects the brain and spinal cord), and pain caused by compressed or traumatized nerves and nerve roots.
1373:(UCBT) have had limited success in treating the mucopolysaccharidoses. Abnormal physical characteristics, except for those affecting the skeleton and eyes, may be improved, but neurologic outcomes have varied. BMT and UCBT are high-risk procedures and are usually performed only after family members receive extensive evaluation and counseling.
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Seven distinct clinical types and numerous subtypes of the mucopolysaccharidoses have been identified. Although each mucopolysaccharidosis (MPS) differs clinically, most patients generally experience a period of normal development followed by a decline in physical and/or mental function. (Note: MPS-V
217:
Individuals with mucopolysaccharidosis either do not produce enough of one of the eleven enzymes required to break down these sugar chains into simpler molecules, or they produce enzymes that do not work properly. Over time, these GAGs collect in the cells, blood and connective tissues. The result is
1074:
or α-L-iduronidase deficiency), is the most severe of the MPS I subtypes. Developmental delay is evident by the end of the first year, and patients usually stop developing between ages 2 and 4. This is followed by progressive mental decline and loss of physical skills. Language may be limited due to
365:
It is estimated that 1 in 25,000 babies born in the United States will have some form of the mucopolysaccharidoses. Approximately 1 in 100,000 newborns will experience severe mucopolysaccharidosis type I, while approximately 1 in 500,000 newborns will experience attenuated mucopolysaccharidosis type
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Depending on the mucopolysaccharidosis subtype, affected individuals may have normal intellect or have cognitive impairments, may experience developmental delay, or may have severe behavioral problems. Many individuals have hearing loss, either conductive (in which pressure behind the eardrum causes
225:
family, a group of genetic disorders that result when the lysosome organelle in animal cells malfunctions. The lysosome can be thought of as the cell's recycling center because it processes unwanted material into other substances that the cell can utilize. Lysosomes break down this unwanted matter
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is an enzymatic replacement therapy for alpha-L-iduronidase produced by BioMarin for use in Type I MPS. In May 2005, galsulfase (under the name
Naglazyme), a recombinant enzyme replacement therapy also produced by Biomarin was approved for MPS VI (Marateaux-Lamy syndrome). In July 2006, the United
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of the hips, knees, ankles, and wrists. The bones that stabilize the connection between the head and neck can be malformed (odontoid hypoplasia); in these cases, a surgical procedure called spinal cervical bone fusion can be lifesaving. Restricted breathing, joint stiffness, and heart disease are
1300:
deficiency. Symptoms included nodular soft-tissue masses located around joints, with episodes of painful swelling of the masses and pain that ended spontaneously within 3 days. Pelvic radiography showed multiple soft-tissue masses and some bone erosion. Other traits included mild facial changes,
1255:
Growth is normal at first but stops suddenly around age 8. By age 10 children have developed a shortened trunk, crouched stance, and restricted joint movement. In more severe cases, children also develop a protruding abdomen and forward-curving spine. Skeletal changes (particularly in the pelvic
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sugar chain. Little clinical difference exists between these four types but symptoms appear most severe and seem to progress more quickly in children with type A. The average duration of
Sanfilippo syndrome is 8 to 10 years following onset of symptoms. Most persons with MPS III live into their
1145:. Hunter syndrome has two clinical subtypes and (since it shows X-linked recessive inheritance) is the only one of the mucopolysaccharidoses in which the mother alone can pass the defective gene to a son. The incidence of Hunter syndrome is estimated to be 1 in 100,000 to 150,000 male births.
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are often enlarged. Children may experience noisy breathing and recurring upper respiratory tract and ear infections. Feeding may be difficult for some children, and many experience periodic bowel problems. Children with Hurler syndrome often die before age 10 from obstructive airway disease,
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The mucopolysaccharidoses share many clinical features but have varying degrees of severity. These features may not be apparent at birth but progress as storage of GAGs affects bone, skeletal structure, connective tissues, and organs. Neurological complications may include damage to
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Diagnosis often can be made through clinical examination and urine tests (excess mucopolysaccharides are excreted in the urine). Enzyme assays (testing a variety of cells or body fluids in culture for enzyme deficiency) are also used to provide definitive diagnosis of one of the
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An enzyme replacement therapy was tested on patients with MPS VI and was successful in that it improved growth and joint movement. An experiment was then carried out to see whether an injection of the missing enzyme into the hips would help the range of motion and pain.
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can verify if a fetus either carries a copy of the defective gene or is affected with the disorder. Genetic counseling can help parents who have a family history of the mucopolysaccharidoses determine if they are carrying the mutated gene that causes the disorders.
1110:, is the mildest form of MPS I. Symptoms generally begin to appear after age 5, with diagnosis most commonly made after age 10. Children with Scheie syndrome have normal intelligence or may have mild learning disabilities; some may have psychiatric problems.
1272:, one of the least common forms of the mucopolysaccharidoses, is estimated to occur in fewer than one in 250,000 births. The disorder is caused by deficiency of the enzyme beta-glucuronidase. In its rarest form, Sly syndrome causes children to be born with
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hearing loss and an enlarged tongue. In time, the clear layers of the cornea become clouded and retinas may begin to degenerate. Carpal tunnel syndrome (or similar compression of nerves elsewhere in the body) and restricted joint movement are common.
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Thickened skin and mild changes in facial features, bone, and skeletal structures become noticeable with age. Growth in height usually stops by age 10. Other problems may include narrowing of the airway passage in the throat and enlargement of the
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Currently there is no cure for these disorders. Medical care is directed at treating systemic conditions and improving the person's quality of life. Physical therapy and daily exercise may delay joint problems and improve the ability to move.
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Physical growth slows generally around the age of 18 months, and stops completely by the age of 8. Skeletal abnormalities include a bell-shaped chest, a flattening or curvature of the spine, shortened long bones, and
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Sanfilippo A is the most severe of the MPS III disorders and is caused by the missing or altered enzyme heparan N-sulfatase. Children with
Sanfilippo A have the shortest survival rate among those with the MPS III
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via enzymes, highly specialized proteins essential for survival. Lysosomal disorders like mucopolysaccharidosis are triggered when a particular enzyme exists in too small an amount or is missing altogether.
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Physical symptoms generally include coarse or rough facial features (including a flat nasal bridge, thick lips, and enlarged mouth and tongue), short stature with disproportionately short trunk (
291:—in which the normal reabsorption of cerebrospinal fluid is blocked and causes increased pressure inside the head—is common in some of the mucopolysaccharidoses. Surgically inserting a
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Nodular soft-tissue masses around joints, episodes of painful swelling of the masses, short-term pain, mild facial changes, short stature, normal joint movement, normal intelligence
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estimate that 1 in 100,000 babies born has Hurler syndrome. The estimate for Scheie syndrome is one in 500,000 births and for Hurler-Scheie syndrome it is one in 115,000 births.
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fluid from the lining of the middle ear to build up and eventually congeal), neurosensory (in which tiny hair cells in the inner ear are damaged), or both. Communicating
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Poorthuis BJ, Wevers RA, Kleijer WJ, Groener JE, de Jong JG, van Weely S, et al. (1999). "The frequency of lysosomal storage diseases in The
Netherlands".
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Changes to the diet will not prevent disease progression, but limiting milk, sugar, and dairy products has helped some individuals experiencing excessive
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region) are progressive and limit movement. Many children also have umbilical or inguinal hernias. Nearly all children have some form of heart disease.
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1359:(Mepsevii) is a recombinant human lysosomal beta glucuronidase for MPS VII (Sly syndrome) approved in the United States in November 2017 (
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There are four distinct types of
Sanfilippo syndrome, each caused by alteration of a different enzyme needed to completely break down the
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is divided into three subtypes based on severity of symptoms. All three types result from an absence of, or insufficient levels of, the
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can restrict hand mobility and function. Recurring respiratory infections are common, as are obstructive airway disease and obstructive
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Surgery to remove tonsils and adenoids may improve breathing among affected individuals with obstructive airway disorders and
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Corneal clouding in a 30-year-old male with MPS-VI. Several other MPS disorders may also present with corneal clouding.
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A 16-year-old male with rapidly progressing MPS-VI, showing characteristic facial features and skeletal abnormalities
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also common. Children with the more severe form of
Morquio syndrome may not live beyond their twenties or thirties.
318:(abnormal bone size and/or shape) and other skeletal irregularities, thickened skin, enlarged organs such as liver (
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permanent, progressive cellular damage which affects appearance, physical abilities, organ and system functioning.
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Although no studies have been done to determine the frequency of MPS I in the United States, studies in
338:. Many affected individuals also have heart disease, often involving enlarged or diseased heart valves.
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Sanfilippo C results from the missing or altered enzyme acetyl-CoAlpha-glucosaminide acetyltransferase.
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acquired short stature as seen in other MPS disorders, and normal joint movement and intelligence.
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The incidence of
Sanfilippo syndrome (for all four types combined) is about one in 70,000 births.
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to sensory organs such as the eyes and to other organs, muscles, and tissues throughout the body.
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Sanfilippo D is caused by the missing or deficient enzyme N-acetylglucosamine 6-sulfatase.
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Nelson J (December 1997). "Incidence of the mucopolysaccharidoses in
Northern Ireland".
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Sanfilippo B is caused by the missing or deficient enzyme alpha-N-acetylglucosaminidase.
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1385:— a morphologic abnormality of white blood cells associated with mucopolysaccharidosis
1185:, making it difficult to eat or swallow. Recurring respiratory infections are common.
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Another lysosomal storage disease often confused with the mucopolysaccharidoses is
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A child with an unspecified MPS disorder, showing characteristic facial features
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Affected children may be quite large at birth and appear normal but may have
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has proven useful in reducing non-neurological symptoms and pain. Currently
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1476:. Philadelphia: Wolters Kluwer Health/Lippincott Williams & Wilkins.
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Mucopolysaccharidosis has an autosomal recessive pattern of inheritance.
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612:(similar, but milder, symptoms to MPS I). This type exceptionally has
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and MPS-VIII are no longer in use as designations for any disease.)
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or iduronate sulfatase deficiency, is caused by lack of the enzyme
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345:. In this disorder, excessive amounts of fatty materials known as
182:(GAGs). These long chains of sugar carbohydrates occur within the
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255:(which send and receive signals throughout the body) as well as
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210:. GAGs (formerly called mucopolysaccharides) are also found in
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1591:"Aldurazyme (laronidase) for MPS I and approved in April 2003"
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and impaired motor function. This results from compression of
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produces enzyme replacement therapies for MPS type I and VI.
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National
Institute of Neurological Disorders and Stroke
1062:. Children born to an MPS I parent carry the defective
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often becomes cloudy from intracellular storage, and
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1444:"Mucopolysaccharidosis type I: MedlinePlus Genetics"
46:. Unsourced material may be challenged and removed.
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1101:respiratory infections, and cardiac complications.
1468:Marks DB, Swanson T, Kim SI, Glucksman M (2007).
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1499:Author: Maryam Banikazemi. Updated: Apr 14, 2009
1343:approved a synthetic version of I2S produced by
379:mucopolysaccharidoses. Prenatal diagnosis using
1296:) had been reported. The disorder results from
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747:Heparan-α-glucosaminide N-acetyltransferase
171:caused by the absence or malfunctioning of
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295:into the brain can drain fluid. The eye's
221:The mucopolysaccharidoses are part of the
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106:Learn how and when to remove this message
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1165:, aggressive behavior, hyperactivity,
307:also may affect the patient's vision.
178:needed to break down molecules called
1725:
1642:Highlights of Prescribing Information
1635:"MEPSEVIITM (vestronidase alfa-vjbk)"
1502:
1193:teenage years, and some live longer.
229:
1644:. U.S. Food and Drug Administration.
1401:
1371:umbilical cord blood transplantation
1161:symptoms. These include progressive
931:, short stature, motor dysfunction,
44:adding citations to reliable sources
15:
1290:Online Mendelian Inheritance in Man
830:, short stature, motor dysfunction
13:
1472:Biochemistry and molecular biology
1414:"Mucopolysaccharidoses Face Sheet"
1351:, as a treatment for MPS type II (
882:See MPS IS (Scheie syndrome) above
366:I. Most mucopolysaccharidoses are
14:
1862:
1851:Proteoglycan metabolism disorders
1652:
918:N-acetylgalactosamine-4-sulfatase
400:
1825:MPS IX: Hyaluronidase deficiency
212:the fluids that lubricate joints
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1815:MPS VI: Maroteaux-Lamy syndrome
780:N-acetylglucosamine 6-sulfatase
31:needs additional citations for
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1:
1846:Autosomal recessive disorders
1621:Drugs@FDA: FDA-Approved Drugs
1420:. 15 Nov 2017. Archived from
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1284:As of 2001, only one case of
1227:develops and is not treated.
813:Galactose-6-sulfate sulfatase
675:, death by the second decade
368:autosomal recessive disorders
1805:MPS III: Sanfilippo syndrome
1341:Food and Drug Administration
1304:
1169:, some deafness and loss of
559:Mucopolysaccharidosis type V
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7:
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1367:Bone marrow transplantation
1345:Shire Pharmaceuticals Group
406:Main mucopolysaccharidoses
352:
10:
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1753:Lysosomal storage diseases
1593:. BioMarin. Archived from
1328:Enzyme replacement therapy
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1148:
678:1:280,000 – 1:50,000
619:1:100,000-1:150,000 males
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1810:MPS IV: Morquio syndrome
1047:
1010:Hyaluronidase deficiency
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303:and degeneration of the
1800:MPS II: Hunter syndrome
1761:carbohydrate metabolism
1332:BioMarin Pharmaceutical
1246:Maroteaux–Lamy syndrome
985:Chondroitin 4,6-sulfate
894:Maroteaux–Lamy syndrome
714:N-acetylglucosaminidase
610:Intellectual disability
492:Intellectual disability
55:"Mucopolysaccharidosis"
1789:Hurler–Scheie syndrome
1244:Children with MPS VI,
1157:, is marked by severe
1119:Hurler–Scheie syndrome
635:Sulfamidase deficiency
535:Hurler–Scheie syndrome
500:coarse facial features
362:
332:carpal tunnel syndrome
263:or nerve roots in the
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1820:MPS VII: Sly syndrome
1765:Mucopolysaccharidoses
1569:10.1007/s004390051078
1526:10.1007/s004390050641
1070:MPS I H (also called
822:Chondroitin 6-sulfate
441:Accumulated products
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165:Mucopolysaccharidoses
124:Mucopolysaccharidosis
1383:Alder–Reilly anomaly
508:retinal degeneration
40:improve this article
1155:Sanfilippo syndrome
1143:iduronate sulfatase
1060:alpha-L-iduronidase
759:Sanfilippo syndrome
726:Sanfilippo syndrome
689:Sanfilippo syndrome
665:Developmental delay
655:Heparan sulfamidase
630:Sanfilippo syndrome
596:Iduronate sulfatase
407:
169:metabolic disorders
1084:(in the groin) or
929:skeletal dysplasia
828:skeletal dysplasia
614:X-linked recessive
520:hepatosplenomegaly
405:
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275:that connects the
271:, the part of the
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230:Signs and symptoms
180:glycosaminoglycans
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1597:on 1 October 2020
1483:978-0-7817-8624-9
1424:on 18 August 2016
1357:Vestronidase alfa
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1006:Natowicz syndrome
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438:Deficient enzyme
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844:Morquio syndrome
792:Morquio syndrome
694:NAGLU deficiency
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1072:Hurler syndrome
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972:β-glucuronidase
952:GUSB deficiency
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870:Keratan sulfate
865:β-galactosidase
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478:α-L-iduronidase
458:Hurler syndrome
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1749:
1748:
1741:
1734:
1726:
1717:
1716:
1713:
1712:
1701:
1686:
1670:
1665:
1664:
1662:
1661:Classification
1654:
1653:External links
1651:
1648:
1647:
1626:
1608:
1582:
1563:(1–2): 151–6.
1557:Human Genetics
1547:
1514:Human Genetics
1501:
1489:
1482:
1460:
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1399:
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1102:
1077:
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1017:
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671:, spasticity,
662:
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583:
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516:cardiomyopathy
489:
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472:
465:
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455:
449:
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445:
442:
439:
436:
431:
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401:Overview table
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375:
372:
354:
351:
273:nervous system
231:
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160:
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146:
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117:
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28:
26:
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1863:
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1843:
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1826:
1823:
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1811:
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1803:
1801:
1798:
1794:
1790:
1786:
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1782:
1781:
1778:
1777:
1775:
1771:
1766:
1762:
1758:
1757:Inborn errors
1754:
1747:
1742:
1740:
1735:
1733:
1728:
1727:
1724:
1711:
1707:
1706:
1702:
1700:
1696:
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1691:
1687:
1685:
1681:
1680:
1676:
1672:
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1668:
1663:
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1630:
1622:
1618:
1612:
1596:
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1586:
1578:
1574:
1570:
1566:
1562:
1558:
1551:
1543:
1539:
1535:
1531:
1527:
1523:
1519:
1515:
1508:
1506:
1498:
1493:
1485:
1479:
1474:
1473:
1464:
1449:
1445:
1439:
1423:
1419:
1415:
1409:
1407:
1405:
1400:
1390:
1387:
1384:
1381:
1380:
1374:
1372:
1368:
1364:
1362:
1358:
1354:
1350:
1346:
1342:
1337:
1333:
1329:
1325:
1323:
1318:
1316:
1311:
1302:
1299:
1298:hyaluronidase
1295:
1291:
1287:
1277:
1275:
1271:
1261:
1257:
1253:
1251:
1247:
1237:
1234:
1228:
1226:
1225:hydrocephalus
1222:
1212:
1206:
1203:
1200:
1196:
1195:
1194:
1191:
1186:
1184:
1180:
1174:
1172:
1168:
1164:
1160:
1156:
1146:
1144:
1140:
1130:
1128:
1120:
1116:
1113:
1109:
1105:
1104:
1099:
1095:
1091:
1087:
1083:
1079:
1078:
1073:
1069:
1068:
1067:
1065:
1061:
1058:
1054:
1041:
1038:
1036:
1033:
1031:
1030:Hyaluronidase
1028:
1025:
1023:
1022:
1018:
1016:
1013:
1007:
1004:
1002:
999:
998:
994:
991:
988:
986:
982:
978:
975:
973:
970:
967:
965:
964:
960:
958:
955:
949:
946:
944:
941:
940:
937:
934:
930:
926:
924:
921:
919:
916:
913:
911:
910:
906:
904:
901:
895:
892:
890:
887:
886:
883:
878:
875:
874:
871:
868:
866:
863:
860:
858:
857:
853:
851:
848:
845:
842:
840:
837:
836:
829:
823:
819:
816:
814:
811:
808:
806:
805:
801:
799:
796:
793:
790:
788:
785:
784:
781:
778:
775:
773:
772:
768:
766:
763:
760:
757:
755:
752:
751:
748:
745:
742:
740:
739:
735:
733:
730:
727:
724:
722:
719:
718:
715:
712:
709:
707:
706:
702:
700:
697:
690:
687:
685:
682:
681:
674:
670:
669:hyperactivity
666:
661:
656:
653:
650:
648:
647:
643:
641:
638:
631:
628:
626:
623:
622:
618:
615:
611:
608:
606:
602:
599:
597:
594:
591:
589:
588:
584:
582:
579:
577:
574:
572:
569:
568:
565:
562:
558:
553:
550:
548:
545:
544:
541:
538:
536:
533:
531:
528:
527:
521:
517:
513:
509:
505:
501:
497:
493:
488:
484:
479:
471:
470:
464:
461:
459:
456:
454:
451:
450:
446:
443:
440:
437:
435:
432:
430:
427:
425:
422:
419:
413:
410:
409:
398:
389:
386:
382:
381:amniocentesis
371:
369:
359:
350:
348:
344:
343:mucolipidosis
339:
337:
333:
329:
325:
322:) or spleen (
321:
317:
313:
308:
306:
302:
298:
294:
290:
289:hydrocephalus
284:
282:
278:
274:
270:
266:
262:
258:
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236:
227:
224:
219:
215:
213:
209:
205:
201:
197:
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177:
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150:
149:Endocrinology
147:
145:
141:
136:
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127:
122:
110:
107:
99:
96:November 2020
88:
85:
81:
78:
74:
71:
67:
64:
60:
57: –
56:
52:
51:Find sources:
45:
41:
35:
34:
29:This article
27:
23:
18:
17:
1764:
1703:
1688:
1673:
1641:
1629:
1620:
1611:
1599:. Retrieved
1595:the original
1585:
1560:
1556:
1550:
1520:(3): 355–8.
1517:
1513:
1492:
1471:
1463:
1451:. Retrieved
1447:
1438:
1426:. Retrieved
1422:the original
1365:
1326:
1319:
1312:
1308:
1283:
1270:Sly syndrome
1267:
1258:
1254:
1243:
1229:
1218:
1210:
1187:
1175:
1159:neurological
1152:
1136:
1124:
1051:
1019:
1000:
990:Hepatomegaly
961:
948:Sly syndrome
942:
907:
888:
881:
876:
854:
838:
833:1 in 75,000
802:
786:
769:
753:
736:
720:
703:
683:
644:
624:
616:inheritance
585:
570:
556:
546:
529:
504:macroglossia
496:micrognathia
467:
452:
417:
395:
377:
364:
340:
324:splenomegaly
320:hepatomegaly
309:
285:
249:
220:
216:
164:
163:
102:
93:
83:
76:
69:
62:
50:
38:Please help
33:verification
30:
1617:"Naglazyme"
1322:sleep apnea
1117:MPS I H-S,
418:Other names
414:Common name
336:sleep apnea
281:spinal cord
265:spinal cord
1840:Categories
1773:Catabolism
1453:30 January
1395:References
1369:(BMT) and
1361:Ultragenyx
1336:Aldurazyme
1198:disorders.
524:1:100,000
514:clouding,
447:Incidence
267:or in the
66:newspapers
1347:, called
1305:Treatment
1268:MPS VII,
1233:dysplasia
1153:MPS III,
1106:MPS I S,
1086:umbilical
667:, severe
557:Formerly:
444:Symptoms
374:Diagnosis
316:dysplasia
192:cartilage
173:lysosomal
144:Specialty
1577:10480370
1542:23099247
1377:See also
1349:Elaprase
1292:(OMIM):
1219:MPS IV,
1183:adenoids
1167:seizures
1163:dementia
1137:MPS II,
1112:Glaucoma
1082:inguinal
1026:3p21.31
968:7q11.21
933:kyphosis
809:16q24.3
776:12q14.3
754:MPS IIID
743:8p11.21
721:MPS IIIC
710:17q21.2
684:MPS IIIB
651:17q25.3
625:MPS IIIA
530:MPS IH/S
353:Genetics
312:dwarfism
301:glaucoma
1710:D009083
1601:12 June
1534:9439667
1339:States
1264:MPS VII
1179:tonsils
1149:MPS III
943:MPS VII
927:Severe
914:5q14.1
861:3p22.3
839:MPS IVB
826:Severe
787:MPS IVA
512:corneal
474:4p16.3
328:hernias
253:neurons
200:corneas
196:tendons
176:enzymes
80:scholar
1575:
1540:
1532:
1480:
1428:11 May
1294:601492
1286:MPS IX
1280:MPS IX
1240:MPS VI
1215:MPS IV
1171:vision
1133:MPS II
1096:, and
1094:spleen
1057:enzyme
1015:601492
1001:MPS IX
957:253220
903:253200
889:MPS VI
850:253010
798:253000
765:252940
738:HGSNAT
732:252930
699:252920
640:252900
581:309900
571:MPS II
564:607016
547:MPS IS
540:607015
463:607014
453:MPS IH
347:lipids
305:retina
297:cornea
261:nerves
151:
82:
75:
68:
61:
53:
1780:MPS I
1699:277.5
1638:(PDF)
1538:S2CID
1315:mucus
1098:heart
1090:liver
1053:MPS I
1048:MPS I
1021:HYAL1
877:MPS V
804:GALNS
705:NAGLU
592:Xq28
434:Locus
411:Type
392:Types
293:shunt
277:brain
184:cells
87:JSTOR
73:books
1705:MeSH
1694:9-CM
1603:2015
1573:PMID
1530:PMID
1478:ISBN
1455:2023
1430:2018
1181:and
1064:gene
963:GUSB
909:ARSB
856:GLB1
646:SGSH
469:IDUA
429:Gene
424:OMIM
383:and
279:and
257:pain
206:and
204:skin
188:bone
59:news
1759:of
1690:ICD
1684:E76
1675:ICD
1565:doi
1561:105
1522:doi
1518:101
1363:).
1355:).
771:GNS
587:IDS
326:),
314:),
42:by
1842::
1791:,
1787:,
1755::
1708::
1697::
1682::
1679:10
1640:.
1619:.
1571:.
1559:.
1536:.
1528:.
1516:.
1504:^
1446:.
1416:.
1403:^
1317:.
1092:,
1066:.
846:B
794:A
761:D
728:C
518:,
510:,
506:,
502:,
498:,
494:,
214:.
202:,
198:,
194:,
190:,
1767:)
1763:(
1745:e
1738:t
1731:v
1692:-
1677:-
1667:D
1623:.
1605:.
1579:.
1567::
1544:.
1524::
1486:.
1457:.
1432:.
1288:(
691:B
632:A
109:)
103:(
98:)
94:(
84:·
77:·
70:·
63:·
36:.
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