161:
44:
385:
370:
157:
on the palms and soles. About half of individuals with type II tyrosinemia are also mentally disabled. Type II tyrosinemia occurs in fewer than 1 in 250,000 individuals.
485:
566:
952:
813:
771:
674:
836:
478:
1134:
571:
154:
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243:
Zea-Rey AV, Cruz-Camino H, Vazquez-Cantu DL, GutiĂ©rrez-GarcĂa VM, Santos-Guzmán J, CantĂş-Reyna C (27 November 2017).
227:
1153:
957:
1202:
1170:
1038:
160:
841:
195:
1244:
576:
1234:
1213:
885:
494:
164:
Pathophysiology of metabolic disorders of tyrosine, resulting in elevated levels of tyrosine in blood.
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846:
818:
586:
279:
115:
533:
528:
411:
190:
119:
244:
1034:
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8:
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145:, and mental development. Symptoms often begin in early childhood and include excessive
984:
907:
874:
543:
394:
1254:
726:
422:
309:
223:
58:
173:
Diagnosis is made based on elevated plasma tyrosine level with skin or eye lesions.
1209:
1091:
1072:
889:
864:
451:
259:
137:
or used in reactions that produce energy. This form of the disorder can affect the
17:
1197:
1192:
1024:
944:
744:
548:
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1058:
869:
808:
538:
427:
242:
95:
379:
1269:
1139:
998:
931:
786:
264:
245:"The Incidence of Transient Neonatal Tyrosinemia Within a Mexican Population"
90:
condition with onset between ages 2 and 4 years, when painful circumscribed
975:
791:
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716:
659:
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967:
150:
103:
99:
63:
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856:
828:
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510:
142:
133:
that converts tyrosine to smaller molecules, which are excreted by the
122:
284:
Genetic and Rare
Diseases Information Center (GARD) – an NCATS Program
43:
1114:
763:
759:
708:
694:
446:
138:
1109:
1054:
1020:
1008:
935:
922:
670:
628:
51:
1012:
736:
666:
641:
632:
558:
405:
800:
519:
374:
134:
130:
91:
146:
129:. Tyrosine aminotransferase is the first in a series of five
114:
Type II tyrosinemia is caused by a deficiency of the enzyme
493:
217:
352:
303:
252:
Journal of Inborn Errors of
Metabolism and Screening
181:
Dietary restrictions of phenylalanine and tyrosine.
37:
Oculocutaneous tyrosinemia, Richner-Hanhart syndrome
220:
218:James WD, Elston DM, Berger TG, Andrews GC (2005).
626:
1267:
567:3-hydroxy-3-methylglutaryl-CoA lyase deficiency
953:6-Pyruvoyltetrahydropterin synthase deficiency
479:
306:Fitzpatrick's Dermatology in General Medicine
837:2-Methylbutyryl-CoA dehydrogenase deficiency
1135:Carbamoyl phosphate synthetase I deficiency
572:3-Methylcrotonyl-CoA carboxylase deficiency
486:
472:
263:
213:
211:
159:
814:Isobutyryl-CoA dehydrogenase deficiency
1268:
640:
208:
1150:Ornithine transcarbamylase deficiency
1145:N-Acetylglutamate synthase deficiency
467:
304:Freedberg IM, Fitzpatrick TB (2003).
153:), eye pain and redness, and painful
1067:Dopamine beta hydroxylase deficiency
297:
903:Methylmalonyl-CoA mutase deficiency
13:
109:
14:
1297:
655:Glutathione synthetase deficiency
348:
149:, abnormal sensitivity to light (
42:
1276:Amino acid metabolism disorders
958:Tetrahydrobiopterin deficiency
322:
272:
236:
1:
1281:Autosomal recessive disorders
1203:Lysinuric protein intolerance
577:3-Methylglutaconic aciduria 1
308:(6th ed.). McGraw-Hill.
201:
842:Beta-ketothiolase deficiency
196:List of cutaneous conditions
176:
168:
7:
1245:Ethylmalonic encephalopathy
222:(10th ed.). Saunders.
184:
10:
1302:
1235:2-Hydroxyglutaric aciduria
1214:Oculocerebrorenal syndrome
15:
1286:Palmoplantar keratodermas
1240:Aminoacylase 1 deficiency
1227:
1169:
1130:Argininosuccinic aciduria
1099:
1089:
1053:
1039:Hermansky–Pudlak syndrome
1007:
966:
943:
930:
920:
883:
855:
847:Maple syrup urine disease
827:
819:Maple syrup urine disease
799:
784:
758:
735:
707:
692:
617:
595:
587:Maple syrup urine disease
557:
518:
505:
437:
356:
116:tyrosine aminotransferase
69:
57:
50:
41:
33:
28:
529:Glutaric acidemia type 1
265:10.1177/2326409817744230
191:Palmoplantar keratoderma
16:Not to be confused with
1035:Oculocutaneous albinism
332:. Myriad Women's Health
125:), encoded by the gene
1154:translocase deficiency
898:Methylmalonic acidemia
680:Glycine encephalopathy
165:
1184:Solute carrier family
499:amino acid metabolism
330:"Tyrosinemia Type II"
163:
1045:Waardenburg syndrome
995:Tyrosinemia type III
750:Prolidase deficiency
280:"Tyrosinemia type 2"
1250:Fumarase deficiency
990:Tyrosinemia type II
650:D-Glyceric acidemia
605:Hypertryptophanemia
582:Isovaleric acidemia
258:: 232640981774423.
88:autosomal recessive
84:Tyrosinemia type II
75:autosomal recessive
29:Tyrosinemia type II
985:Tyrosinemia type I
908:Propionic acidemia
875:Hypermethioninemia
544:Pipecolic acidemia
438:External resources
166:
1263:
1262:
1255:Trimethylaminuria
1165:
1164:
1161:
1160:
1085:
1084:
1081:
1080:
916:
915:
780:
779:
727:Urocanic aciduria
688:
687:
613:
612:
461:
460:
81:
80:
23:Medical condition
1293:
1210:Fanconi syndrome
1097:
1096:
1073:Brunner syndrome
941:
940:
928:
927:
865:Cystathioninuria
797:
796:
705:
704:
638:
637:
624:
623:
516:
515:
488:
481:
474:
465:
464:
354:
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342:
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301:
295:
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270:
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249:
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104:sole of the foot
100:palm of the hand
46:
26:
25:
18:Hanhart syndrome
1301:
1300:
1296:
1295:
1294:
1292:
1291:
1290:
1266:
1265:
1264:
1259:
1223:
1198:Iminoglycinuria
1193:Hartnup disease
1174:
1157:
1107:
1077:
1049:
1025:Ocular albinism
1003:
962:
945:Phenylketonuria
912:
879:
851:
823:
790:
776:
754:
745:Hyperprolinemia
731:
700:α-ketoglutarate
698:
684:
675:GAMT deficiency
609:
591:
553:
549:Saccharopinuria
522:/straight chain
501:
492:
462:
457:
456:
433:
432:
365:
351:
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345:
335:
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328:
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112:
110:Pathophysiology
96:pressure points
94:develop on the
24:
21:
12:
11:
5:
1299:
1289:
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1261:
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1257:
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1237:
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1216:
1206:
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1200:
1195:
1190:
1180:
1178:
1167:
1166:
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1162:
1159:
1158:
1156:
1147:
1142:
1137:
1132:
1127:
1122:
1120:
1119:
1118:
1105:Hyperammonemia
1094:
1087:
1086:
1083:
1082:
1079:
1078:
1076:
1075:
1069:
1063:
1061:
1059:Norepinephrine
1051:
1050:
1048:
1047:
1042:
1032:
1017:
1015:
1005:
1004:
1002:
1001:
992:
987:
982:
972:
970:
964:
963:
961:
960:
955:
949:
947:
938:
925:
918:
917:
914:
913:
911:
910:
905:
900:
894:
892:
881:
880:
878:
877:
872:
870:Homocystinuria
867:
861:
859:
853:
852:
850:
849:
844:
839:
833:
831:
825:
824:
822:
821:
816:
811:
809:Hypervalinemia
805:
803:
794:
782:
781:
778:
777:
775:
774:
768:
766:
756:
755:
753:
752:
747:
741:
739:
733:
732:
730:
729:
724:
719:
713:
711:
702:
690:
689:
686:
685:
683:
682:
677:
663:
662:
657:
652:
646:
644:
635:
621:
615:
614:
611:
610:
608:
607:
601:
599:
593:
592:
590:
589:
584:
579:
574:
569:
563:
561:
555:
554:
552:
551:
546:
541:
539:Hyperlysinemia
536:
531:
525:
523:
513:
503:
502:
491:
490:
483:
476:
468:
459:
458:
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454:
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357:Classification
350:
349:External links
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22:
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3:
2:
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1230:
1226:
1220:
1217:
1215:
1211:
1208:
1207:
1204:
1201:
1199:
1196:
1194:
1191:
1189:
1185:
1182:
1181:
1179:
1177:
1172:
1168:
1155:
1151:
1148:
1146:
1143:
1141:
1140:Citrullinemia
1138:
1136:
1133:
1131:
1128:
1126:
1123:
1121:
1116:
1113:
1112:
1111:
1106:
1102:
1098:
1095:
1093:
1088:
1074:
1070:
1068:
1065:
1064:
1062:
1060:
1056:
1052:
1046:
1043:
1040:
1036:
1033:
1030:
1026:
1022:
1019:
1018:
1016:
1014:
1010:
1006:
1000:
999:Hawkinsinuria
996:
993:
991:
988:
986:
983:
981:
977:
974:
973:
971:
969:
965:
959:
956:
954:
951:
950:
948:
946:
942:
939:
937:
933:
932:Phenylalanine
929:
926:
924:
919:
909:
906:
904:
901:
899:
896:
895:
893:
891:
887:
882:
876:
873:
871:
868:
866:
863:
862:
860:
858:
854:
848:
845:
843:
840:
838:
835:
834:
832:
830:
826:
820:
817:
815:
812:
810:
807:
806:
804:
802:
798:
795:
793:
788:
787:propionyl-CoA
783:
773:
770:
769:
767:
765:
761:
757:
751:
748:
746:
743:
742:
740:
738:
734:
728:
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723:
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718:
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714:
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710:
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535:
532:
530:
527:
526:
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521:
517:
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500:
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489:
484:
482:
477:
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469:
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453:
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436:
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387:
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331:
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317:
315:0-07-138076-0
311:
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261:
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246:
239:
231:
229:0-7216-2921-0
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189:
188:
182:
174:
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85:
76:
72:
68:
65:
62:
60:
56:
53:
49:
45:
40:
36:
32:
27:
19:
1092:oxaloacetate
989:
976:Alkaptonuria
792:succinyl-CoA
722:Histidinemia
717:Carnosinemia
660:Sarcosinemia
495:Inborn error
445:
421:
410:
399:
384:
369:
334:. Retrieved
324:
305:
299:
287:. Retrieved
283:
274:
255:
251:
238:
219:
180:
172:
155:skin lesions
126:
113:
83:
82:
1125:Argininemia
968:Tyrosinemia
151:photophobia
64:Dermatology
34:Other names
1270:Categories
1219:Cystinosis
1188:Cystinuria
1101:Urea cycle
980:Ochronosis
857:Methionine
829:Isoleucine
597:Tryptophan
511:acetyl-CoA
423:DiseasesDB
336:14 October
202:References
1176:IE of RTT
1171:Transport
1115:aspartate
1071:reverse:
764:glutamine
760:Glutamate
709:Histidine
695:glutamate
447:eMedicine
289:24 August
177:Treatment
169:Diagnosis
73:Genetic (
59:Specialty
1110:arginine
1055:Tyrosine
1021:Albinism
1009:Tyrosine
936:tyrosine
923:fumarate
884:General
671:Creatine
629:pyruvate
452:ped/2339
185:See also
92:calluses
52:Tyrosine
1013:Melanin
737:Proline
667:Glycine
642:Glycine
633:citrate
559:Leucine
417:D020176
147:tearing
135:kidneys
131:enzymes
123:2.6.1.5
98:of the
801:Valine
772:SSADHD
534:type 2
520:Lysine
406:276600
312:
226:
86:is an
70:Causes
1228:Other
428:13486
395:270.2
380:E70.2
248:(PDF)
412:MeSH
401:OMIM
390:9-CM
338:2020
310:ISBN
291:2019
224:ISBN
143:skin
139:eyes
102:and
497:of
386:ICD
371:ICD
260:doi
127:TAT
1272::
1212::
1186::
1090:G→
1023::
921:G→
890:OA
886:BC
785:G→
693:G→
673::
627:G→
450::
426::
415::
404::
393::
378::
375:10
282:.
254:.
250:.
210:^
141:,
120:EC
106:.
1173:/
1152:/
1117:)
1108:(
1103:/
1057:→
1041:)
1037:(
1031:)
1029:1
1027:(
1011:→
997:/
978:/
934:/
888:/
789:→
762:/
697:→
669:→
631:→
619:G
509:→
507:K
487:e
480:t
473:v
388:-
373:-
363:D
340:.
318:.
293:.
268:.
262::
256:5
232:.
118:(
77:)
20:.
Text is available under the Creative Commons Attribution-ShareAlike License. Additional terms may apply.
