450:
mothers comment retrospectively that they noticed fetal rhythmic "hiccuping" episodes during pregnancy, most likely reflecting seizure episodes in utero. Patients with the infantile form of glycine encephalopathy do not show lethargy and coma in the neonatal period, but often have a history of hypotonia. They often have seizures, which can range in severity and responsiveness to treatment, and they are typically developmentally delayed. Glycine encephalopathy can also present as a milder form with episodic seizures,
95:
376:') can produce elevated glycine in plasma and urine, although these disorders are not caused by defects in the glycine cleavage system, and they are not typically accompanied by corresponding elevations of glycine in cerebrospinal fluid (CSF). Glycine encephalopathy is unique in the fact that levels of glycine are disproportionately elevated in CSF (in addition to elevations in blood and urine), whereas CSF glycine levels are normal or near-normal in patients with inherited organic acidurias.
61:
311:. In an autosomal recessive inheritance pattern, two defective copies of the gene (one inherited from each parent) are required in order for a child to be born with the disorder. Therefore, each parent of an individual with an autosomal recessive disorder has at least one defective copy of the gene. With autosomal recessive disorders, individuals with only one copy of a defective gene (
166:
478:
eight weeks, and in five of six cases there were no neurological issues detected at follow-up times up to thirteen years. A single patient was severely retarded at nine months. The suspected cause of transient neonatal hyperglicinemia is attributed to low activity of the glycine cleavage system in the immature brain and liver of the neonate.
351:
made up of four protein subunits. Defects in these subunits can cause glycine encephalopathy, although some causes of the disease are still unknown. Normally, GCS shows its highest enzymatic activity in liver, brain and placental tissue. One of its main functions is to maintain normal glycine levels
477:
Transient neonatal hyperglycinemia has been described in a very small number of cases. Initially, these patients present with the same symptoms and laboratory results that are seen in the classical presentation. However, levels of glycine in plasma and cerebrospinal fluid typically normalize within
156:
It typically presents as a severe encephalopathy with myoclonic seizures, is rapidly progressive and eventually results in respiratory arrest. Standard evaluation for inborn errors of metabolism and other causes of this presentation does not reveal any abnormality (no acidosis, no hypoglycaemia, or
518:
Response to treatment is variable and the long-term and functional outcome is unknown. To provide a basis for improving the understanding of the epidemiology, genotype/phenotype correlation and outcome of these diseases their impact on the quality of life of patients, and for evaluating diagnostic
287:
Defects in the GCS proteins can prevent the complex from functioning properly or can prevent the GCS complex from forming entirely. When the complex is unable to metabolize glycine properly, this causes excess glycine to build up to toxic levels in the body's organs and tissues. Damage caused by
279:
A small percentage of affected individuals do not have detectable mutations in any of the three genes (listed above) that are typically associated with the disease. However, they still show defective glycine-cleavage enzymatic activity. It is thought that these patients may have mutations in the
363:
All forms of glycine encephalopathy show elevated levels of glycine in the plasma, as well as in cerebral spinal fluid (CSF). Glycine concentrations in the CSF of affected patients are typically more markedly elevated than in plasma, leading to a corresponding elevation in the ratio of glycine
449:
requiring artificial ventilation, and often death. Apneic patients can regain spontaneous respiration in their second to third week of life. After recovery from the initial episode, patients have intractable seizures and profound intellectual disability, remaining developmentally delayed. Some
756:
Bjoraker, Kendra J.; Swanson, Michael A.; Coughlin, Curtis R.; Christodoulou, John; Tan, Ee S.; Fergeson, Mark; Dyack, Sarah; Ahmad, Ayesha; Friederich, Marisa W.; Spector, Elaine B.; Creadon-Swindell, Geralyn; Hodge, M. Antoinette; Gaughan, Sommer; Burns, Casey; Van Hove, Johan L.K. (2016).
131:
responsible for glycine catabolism. There are several forms of the disease, with varying severity of symptoms and time of onset. The symptoms are exclusively neurological in nature, and clinically this disorder is characterized by abnormally high levels of the amino acid
413:
There are several different forms of glycine encephalopathy, which can be distinguished by the age of onset, as well as the types and severity of symptoms. All forms of glycine encephalopathy present with only neurological symptoms, including intellectual disability
143:
Glycine encephalopathy is sometimes referred to as "nonketotic hyperglycinemia" (NKH), as a reference to the biochemical findings seen in patients with the disorder, and to distinguish it from the disorders that cause "ketotic hyperglycinemia" (seen in
371:
Glycine encephalopathy (nonketotic hyperglycinemia, or NKH) should not be confused with other metabolic disorders that can produce elevated glycine levels. For example, certain inherited 'organic acidurias' (aka
520:
510:
The prognosis is very poor. Two studies reported typical age of deaths in infancy or early childhood, with the first reporting a median age of death of 2.6 for boys and less than 1 month for girls.
148:
and several other inherited metabolic disorders). To avoid confusion, the term "glycine encephalopathy" is often used, as this term more accurately describes the clinical symptoms of the disorder.
618:
666:
Hennermann, Julia B.; Berger, Jeanne-Marie; Grieben, Ulrike; Scharer, Gunter; Hove, Johan L. K. Van (2011-10-15). "Prediction of long-term outcome in glycine encephalopathy: a clinical survey".
531:
NKH is a rare disease but maintains a very active community presence for educating parents with newly diagnosed children and fundraising for genetic therapy. Leaders in the space include the
157:
hyperammonaemia and no other organ affected). Pronounced and sustained hiccups in an encephalopathic infant have been described as a typical observation in non-ketotic hyperglycinaemia.
932:
335:
in the brain, act as an inhibitor in the spinal cord and brain stem, while having excitatory effects in the cortex of the brain. Glycine is metabolized to final end products of
466:
illness. These patients are also developmentally delayed, to varying degrees. In the later onset form, patients typically have normal intellectual function, but present with
720:
Adam, M. P.; Mirzaa, G. M.; Pagon, R. A.; Wallace, S. E.; Bean LJH; Gripp, K. W.; Amemiya, A.; Van Hove JLK; Coughlin c, I. I.; Swanson, M.; Hennermann, J. B. (1993).
798:
Hoover-Fong, J. E.; Shah, S.; Van Hove, J. L. K.; Applegarth, D.; Toone, J.; Hamosh, A. (2004-11-23). "Natural history of nonketotic hyperglycinemia in 65 patients".
1013:
1399:
1260:
1218:
1121:
174:
1283:
925:
360:. The exact pathophysiology of the disorder is not known, but it is considered likely that buildup of glycine in the brain is responsible for the symptoms.
1581:
1018:
645:
1722:
1622:
623:
918:
548:
1732:
945:
429:
With the classical, or neonatal presentation of glycine encephalopathy, the infant is born after an unremarkable pregnancy, but presents with
1596:
1591:
1727:
1513:
759:"Neurodevelopmental Outcome and Treatment Efficacy of Benzoate and Dextromethorphan in Siblings with Attenuated Nonketotic Hyperglycinemia"
1349:
882:
1101:
364:
concentrations in the cerebral spinal fluid to that in the plasma. This ratio can also be slightly elevated in patients receiving
1600:
1737:
1404:
499:
269:
1485:
1649:
1617:
502:
that glycine acts on has been shown to improve outcomes in select cases where the disorder is present in attenuated form.
1288:
1691:
1023:
553:
1681:
1660:
1332:
941:
1686:
1576:
1293:
1265:
1033:
649:
980:
975:
893:
1481:
1146:
393:
344:
297:
281:
276:. However, to date there have been no mutations in GCSL found to be associated with glycine encephalopathy.
182:
124:
1742:
1475:
1344:
230:
1630:
1065:
415:
185:(GCS), which is made up of four protein subunits. Each of these four subunits is encoded by a separate
169:
Glycine
Encephalopathy (Nonketotic Hyperglycinemia) has an autosomal recessive pattern of inheritance.
1491:
1441:
1196:
953:
28:
307:
pattern. The term "autosomal" signifies that the gene associated with the disorder is located on an
94:
1696:
1547:
1436:
1096:
1051:
1028:
357:
289:
173:
Glycine encephalopathy has an estimated incidence of 1 in 60,000, making it the second most common
137:
108:
474:. The mild form of the disorder corresponds to greatly reduced but not fully absent GCS activity.
1431:
1354:
1321:
990:
831:
699:
293:
145:
1701:
1173:
823:
815:
780:
729:
691:
683:
599:
373:
75:
1656:
1538:
1519:
1336:
1311:
807:
770:
675:
495:
467:
332:
84:
17:
1644:
1639:
1471:
1391:
1191:
995:
487:
442:
348:
316:
178:
116:
910:
400:
is made up of four protein subunits, the P-protein, H-protein, T-protein and L-protein.
1551:
1505:
1316:
1255:
985:
811:
385:
340:
304:
1716:
1586:
1445:
1378:
1233:
471:
365:
328:
312:
88:
835:
728:. National Center for Biotechnology Information, U.S. National Library of Medicine.
703:
319:" for the disorder. Carriers usually do not show signs or symptoms of the disorder.
1422:
1238:
1168:
1163:
1106:
519:
and therapeutic strategies a patient registry was established by the noncommercial
397:
353:
189:. Defects in three of these four genes have been linked to glycine encephalopathy.
898:
213:
encodes the "glycine dehydrogenase" subunit, also called "glycine decarboxylase"
1571:
1414:
775:
758:
60:
1665:
1634:
1426:
1303:
1275:
1043:
957:
721:
679:
459:
120:
819:
687:
216:
About 70-75% of cases of glycine encephalopathy result from mutations in the
1561:
1210:
1206:
1155:
1141:
491:
434:
419:
80:
827:
784:
733:
695:
352:
in the brain. Defects in GCS cause an increase of glycine concentration in
165:
1556:
1501:
1467:
1455:
1382:
1369:
1117:
1075:
438:
430:
423:
308:
874:
292:
is responsible for the characteristic seizures, breathing difficulties,
1459:
1183:
1113:
1088:
1079:
1005:
463:
389:
336:
133:
112:
68:
1247:
966:
646:"The Organic Acidemias: An Overview -- GeneReviews -- NCBI Bookshelf"
455:
451:
128:
446:
164:
532:
521:
International
Working Group on Neurotransmitter Related Disorders
887:
584:
Sarafoglou, Kyriakie; Hoffmann, Georg F.; Roth, Karl S. (eds.).
536:
249:
207:
186:
914:
119:, glycine encephalopathy is the second most common disorder of
384:
Glycine is metabolized in the body's cells to end products of
849:
255:
encoding the subunit "glycine cleavage system protein H"
600:"Autosomal recessive: MedlinePlus Medical Encyclopedia"
586:
396:, which is responsible for glycine metabolism in the
864:
123:
metabolism. The disease is caused by defects in the
40:
Glycine encephalopathy (non-ketotic hyperglycinemia)
1674:
1616:
1546:
1536:
1500:
1454:
1413:
1390:
1377:
1367:
1330:
1302:
1274:
1246:
1231:
1205:
1182:
1154:
1139:
1087:
1073:
1064:
1042:
1004:
965:
952:
868:
74:
44:
39:
622:
239:About 20% of cases are caused by mutations in the
1014:3-hydroxy-3-methylglutaryl-CoA lyase deficiency
1400:6-Pyruvoyltetrahydropterin synthase deficiency
327:Glycine is the simplest amino acid, having no
236:encoding the "aminomethyltransferase" subunit
926:
715:
713:
588:. New York: McGraw Hill Medical. p. 811.
136:in bodily fluids and tissues, especially the
8:
1284:2-Methylbutyryl-CoA dehydrogenase deficiency
579:
577:
575:
573:
571:
569:
288:elevated levels of glycine in the brain and
1582:Carbamoyl phosphate synthetase I deficiency
1019:3-Methylcrotonyl-CoA carboxylase deficiency
1543:
1387:
1374:
1243:
1151:
1084:
1070:
962:
933:
919:
911:
865:
751:
749:
93:
59:
36:
27:"NKH" redirects here. For other uses, see
774:
613:
611:
609:
262:gene account for less than 1% of cases.
191:
1261:Isobutyryl-CoA dehydrogenase deficiency
565:
549:List of amino acid metabolism disorders
668:Journal of Inherited Metabolic Disease
1597:Ornithine transcarbamylase deficiency
1592:N-Acetylglutamate synthase deficiency
7:
1514:Dopamine beta hydroxylase deficiency
661:
659:
1350:Methylmalonyl-CoA mutase deficiency
490:, which binds to glycine and forms
268:There is a fourth unit in the GCS:
812:10.1212/01.wnl.0000144270.83080.29
181:. It is caused by a defect in the
25:
1102:Glutathione synthetase deficiency
303:This disorder is inherited in an
284:associated with the GCS complex.
175:disorder of amino acid metabolism
1723:Amino acid metabolism disorders
1405:Tetrahydrobiopterin deficiency
500:N-methyl-D-aspartate receptors
270:dihydrolipoamide dehydrogenase
1:
1733:Autosomal recessive disorders
1650:Lysinuric protein intolerance
1024:3-Methylglutaconic aciduria 1
621:. McGraw Hill. Archived from
533:Jack Richard Urban Foundation
1289:Beta-ketothiolase deficiency
722:"Nonketotic Hyperglycinemia"
619:"Nonketotic hyperglycinemia"
498:, which weakly inhibits the
18:Non-ketotic hyperglycinaemia
1728:Inborn errors of metabolism
1692:Ethylmalonic encephalopathy
776:10.1016/j.jpeds.2015.12.027
554:inborn errors of metabolism
426:, and brain malformations.
49:Non-ketotic hyperglycinemia
1759:
1682:2-Hydroxyglutaric aciduria
1661:Oculocerebrorenal syndrome
280:genes encoding one of the
26:
1687:Aminoacylase 1 deficiency
1577:Argininosuccinic aciduria
1486:Hermansky–Pudlak syndrome
1294:Maple syrup urine disease
1266:Maple syrup urine disease
1034:Maple syrup urine disease
763:The Journal of Pediatrics
680:10.1007/s10545-011-9398-1
67:
58:
976:Glutaric acidemia type 1
445:, which can progress to
1482:Oculocutaneous albinism
394:glycine cleavage system
345:glycine cleavage system
298:intellectual disability
183:glycine cleavage system
125:glycine cleavage system
1738:Mitochondrial diseases
1601:translocase deficiency
1345:Methylmalonic acidemia
1127:Glycine encephalopathy
726:Glycine Encephalopathy
418:below 20 are common),
170:
105:Glycine encephalopathy
1631:Solute carrier family
946:amino acid metabolism
168:
1492:Waardenburg syndrome
1442:Tyrosinemia type III
1197:Prolidase deficiency
29:NKH (disambiguation)
1697:Fumarase deficiency
1437:Tyrosinemia type II
1097:D-Glyceric acidemia
1052:Hypertryptophanemia
1029:Isovaleric acidemia
358:cerebrospinal fluid
305:autosomal recessive
290:cerebrospinal fluid
138:cerebrospinal fluid
109:autosomal recessive
1432:Tyrosinemia type I
1355:Propionic acidemia
1322:Hypermethioninemia
991:Pipecolic acidemia
850:"Patient registry"
456:movement disorders
380:Glycine metabolism
331:. It can act as a
315:) are considered "
294:movement disorders
171:
152:Signs and symptoms
146:propionic acidemia
115:metabolism. After
1710:
1709:
1702:Trimethylaminuria
1612:
1611:
1608:
1607:
1532:
1531:
1528:
1527:
1363:
1362:
1227:
1226:
1174:Urocanic aciduria
1135:
1134:
1060:
1059:
908:
907:
806:(10): 1847–1853.
374:organic acidemias
266:
265:
258:Mutations in the
102:
101:
34:Medical condition
16:(Redirected from
1750:
1657:Fanconi syndrome
1544:
1520:Brunner syndrome
1388:
1375:
1312:Cystathioninuria
1244:
1152:
1085:
1071:
963:
935:
928:
921:
912:
866:
854:
853:
846:
840:
839:
795:
789:
788:
778:
753:
744:
743:
741:
740:
717:
708:
707:
663:
654:
653:
648:. Archived from
642:
636:
635:
633:
632:
626:
615:
604:
603:
596:
590:
589:
581:
496:dextromethorphan
468:spastic diplegia
333:neurotransmitter
192:
98:
97:
85:medical genetics
63:
37:
21:
1758:
1757:
1753:
1752:
1751:
1749:
1748:
1747:
1713:
1712:
1711:
1706:
1670:
1645:Iminoglycinuria
1640:Hartnup disease
1621:
1604:
1554:
1524:
1496:
1472:Ocular albinism
1450:
1409:
1392:Phenylketonuria
1359:
1326:
1298:
1270:
1237:
1223:
1201:
1192:Hyperprolinemia
1178:
1147:α-ketoglutarate
1145:
1131:
1122:GAMT deficiency
1056:
1038:
1000:
996:Saccharopinuria
969:/straight chain
948:
939:
909:
904:
903:
877:
863:
858:
857:
848:
847:
843:
797:
796:
792:
755:
754:
747:
738:
736:
719:
718:
711:
665:
664:
657:
644:
643:
639:
630:
628:
617:
616:
607:
598:
597:
593:
583:
582:
567:
562:
545:
529:
516:
508:
488:sodium benzoate
486:A treatment of
484:
443:myoclonic jerks
411:
406:
382:
325:
323:Pathophysiology
179:phenylketonuria
163:
154:
117:phenylketonuria
92:
35:
32:
23:
22:
15:
12:
11:
5:
1756:
1754:
1746:
1745:
1740:
1735:
1730:
1725:
1715:
1714:
1708:
1707:
1705:
1704:
1699:
1694:
1689:
1684:
1678:
1676:
1672:
1671:
1669:
1668:
1663:
1653:
1652:
1647:
1642:
1637:
1627:
1625:
1614:
1613:
1610:
1609:
1606:
1605:
1603:
1594:
1589:
1584:
1579:
1574:
1569:
1567:
1566:
1565:
1552:Hyperammonemia
1541:
1534:
1533:
1530:
1529:
1526:
1525:
1523:
1522:
1516:
1510:
1508:
1506:Norepinephrine
1498:
1497:
1495:
1494:
1489:
1479:
1464:
1462:
1452:
1451:
1449:
1448:
1439:
1434:
1429:
1419:
1417:
1411:
1410:
1408:
1407:
1402:
1396:
1394:
1385:
1372:
1365:
1364:
1361:
1360:
1358:
1357:
1352:
1347:
1341:
1339:
1328:
1327:
1325:
1324:
1319:
1317:Homocystinuria
1314:
1308:
1306:
1300:
1299:
1297:
1296:
1291:
1286:
1280:
1278:
1272:
1271:
1269:
1268:
1263:
1258:
1256:Hypervalinemia
1252:
1250:
1241:
1229:
1228:
1225:
1224:
1222:
1221:
1215:
1213:
1203:
1202:
1200:
1199:
1194:
1188:
1186:
1180:
1179:
1177:
1176:
1171:
1166:
1160:
1158:
1149:
1137:
1136:
1133:
1132:
1130:
1129:
1124:
1110:
1109:
1104:
1099:
1093:
1091:
1082:
1068:
1062:
1061:
1058:
1057:
1055:
1054:
1048:
1046:
1040:
1039:
1037:
1036:
1031:
1026:
1021:
1016:
1010:
1008:
1002:
1001:
999:
998:
993:
988:
986:Hyperlysinemia
983:
978:
972:
970:
960:
950:
949:
940:
938:
937:
930:
923:
915:
906:
905:
902:
901:
890:
878:
873:
872:
870:
869:Classification
862:
861:External links
859:
856:
855:
841:
790:
745:
709:
674:(2): 253–261.
655:
652:on 2010-05-27.
637:
605:
591:
564:
563:
561:
558:
557:
556:
551:
544:
541:
528:
525:
515:
512:
507:
504:
483:
480:
410:
409:Classification
407:
405:
402:
386:carbon dioxide
381:
378:
349:enzyme complex
341:carbon dioxide
324:
321:
264:
263:
256:
253:
245:
244:
237:
234:
222:
221:
214:
211:
203:
202:
199:
196:
162:
159:
153:
150:
100:
99:
78:
72:
71:
65:
64:
56:
55:
46:
42:
41:
33:
24:
14:
13:
10:
9:
6:
4:
3:
2:
1755:
1744:
1743:Rare diseases
1741:
1739:
1736:
1734:
1731:
1729:
1726:
1724:
1721:
1720:
1718:
1703:
1700:
1698:
1695:
1693:
1690:
1688:
1685:
1683:
1680:
1679:
1677:
1673:
1667:
1664:
1662:
1658:
1655:
1654:
1651:
1648:
1646:
1643:
1641:
1638:
1636:
1632:
1629:
1628:
1626:
1624:
1619:
1615:
1602:
1598:
1595:
1593:
1590:
1588:
1587:Citrullinemia
1585:
1583:
1580:
1578:
1575:
1573:
1570:
1568:
1563:
1560:
1559:
1558:
1553:
1549:
1545:
1542:
1540:
1535:
1521:
1517:
1515:
1512:
1511:
1509:
1507:
1503:
1499:
1493:
1490:
1487:
1483:
1480:
1477:
1473:
1469:
1466:
1465:
1463:
1461:
1457:
1453:
1447:
1446:Hawkinsinuria
1443:
1440:
1438:
1435:
1433:
1430:
1428:
1424:
1421:
1420:
1418:
1416:
1412:
1406:
1403:
1401:
1398:
1397:
1395:
1393:
1389:
1386:
1384:
1380:
1379:Phenylalanine
1376:
1373:
1371:
1366:
1356:
1353:
1351:
1348:
1346:
1343:
1342:
1340:
1338:
1334:
1329:
1323:
1320:
1318:
1315:
1313:
1310:
1309:
1307:
1305:
1301:
1295:
1292:
1290:
1287:
1285:
1282:
1281:
1279:
1277:
1273:
1267:
1264:
1262:
1259:
1257:
1254:
1253:
1251:
1249:
1245:
1242:
1240:
1235:
1234:propionyl-CoA
1230:
1220:
1217:
1216:
1214:
1212:
1208:
1204:
1198:
1195:
1193:
1190:
1189:
1187:
1185:
1181:
1175:
1172:
1170:
1167:
1165:
1162:
1161:
1159:
1157:
1153:
1150:
1148:
1143:
1138:
1128:
1125:
1123:
1119:
1115:
1112:
1111:
1108:
1105:
1103:
1100:
1098:
1095:
1094:
1092:
1090:
1086:
1083:
1081:
1077:
1072:
1069:
1067:
1063:
1053:
1050:
1049:
1047:
1045:
1041:
1035:
1032:
1030:
1027:
1025:
1022:
1020:
1017:
1015:
1012:
1011:
1009:
1007:
1003:
997:
994:
992:
989:
987:
984:
982:
979:
977:
974:
973:
971:
968:
964:
961:
959:
955:
951:
947:
943:
936:
931:
929:
924:
922:
917:
916:
913:
900:
896:
895:
891:
889:
885:
884:
880:
879:
876:
871:
867:
860:
851:
845:
842:
837:
833:
829:
825:
821:
817:
813:
809:
805:
801:
794:
791:
786:
782:
777:
772:
768:
764:
760:
752:
750:
746:
735:
731:
727:
723:
716:
714:
710:
705:
701:
697:
693:
689:
685:
681:
677:
673:
669:
662:
660:
656:
651:
647:
641:
638:
627:on 2016-03-07
625:
620:
614:
612:
610:
606:
601:
595:
592:
587:
580:
578:
576:
574:
572:
570:
566:
559:
555:
552:
550:
547:
546:
542:
540:
538:
537:NKH Crusaders
534:
526:
524:
522:
513:
511:
505:
503:
501:
497:
493:
489:
481:
479:
475:
473:
472:optic atrophy
469:
465:
461:
457:
453:
448:
444:
440:
436:
432:
427:
425:
421:
417:
408:
403:
401:
399:
395:
391:
387:
379:
377:
375:
369:
367:
366:valproic acid
361:
359:
355:
350:
346:
342:
338:
334:
330:
329:stereoisomers
322:
320:
318:
314:
313:heterozygotes
310:
306:
301:
299:
295:
291:
285:
283:
277:
275:
271:
261:
257:
254:
252:
251:
247:
246:
242:
238:
235:
233:
232:
227:
224:
223:
219:
215:
212:
210:
209:
205:
204:
200:
197:
194:
193:
190:
188:
184:
180:
176:
167:
160:
158:
151:
149:
147:
141:
139:
135:
130:
126:
122:
118:
114:
110:
106:
96:
90:
89:endocrinology
86:
82:
79:
77:
73:
70:
66:
62:
57:
54:
50:
47:
43:
38:
30:
19:
1539:oxaloacetate
1423:Alkaptonuria
1239:succinyl-CoA
1169:Histidinemia
1164:Carnosinemia
1126:
1107:Sarcosinemia
942:Inborn error
892:
881:
844:
803:
799:
793:
766:
762:
737:. Retrieved
725:
671:
667:
650:the original
640:
629:. Retrieved
624:the original
594:
585:
530:
517:
509:
485:
476:
428:
412:
398:mitochondria
383:
370:
362:
354:blood plasma
343:through the
326:
302:
286:
278:
273:
267:
259:
248:
240:
229:
225:
217:
206:
172:
155:
142:
111:disorder of
104:
103:
52:
48:
1572:Argininemia
1415:Tyrosinemia
769:: 234–239.
45:Other names
1717:Categories
1666:Cystinosis
1635:Cystinuria
1548:Urea cycle
1427:Ochronosis
1304:Methionine
1276:Isoleucine
1044:Tryptophan
958:acetyl-CoA
739:2011-09-22
631:2011-09-22
560:References
460:gaze palsy
347:(GCS), an
121:amino acid
107:is a rare
1623:IE of RTT
1618:Transport
1562:aspartate
1518:reverse:
1211:glutamine
1207:Glutamate
1156:Histidine
1142:glutamate
820:1526-632X
800:Neurology
688:0141-8955
506:Prognosis
492:hippurate
482:Treatment
437:, apneic
435:hypotonia
422:, apneic
420:hypotonia
416:IQ scores
404:Diagnosis
282:cofactors
81:Neurology
76:Specialty
1557:arginine
1502:Tyrosine
1468:Albinism
1456:Tyrosine
1383:tyrosine
1370:fumarate
1331:General
1118:Creatine
1076:pyruvate
836:23783707
828:15557500
785:26749113
734:20301531
704:25206831
696:22002442
543:See also
535:and the
523:(iNTD).
514:Research
439:seizures
431:lethargy
424:seizures
317:carriers
309:autosome
201:Percent
177:, after
161:Genetics
1460:Melanin
1184:Proline
1114:Glycine
1089:Glycine
1080:citrate
1006:Leucine
899:D020158
527:Support
464:febrile
462:during
390:ammonia
337:ammonia
134:glycine
113:glycine
69:Glycine
1248:Valine
1219:SSADHD
981:type 2
967:Lysine
888:605899
834:
826:
818:
783:
732:
702:
694:
686:
494:, and
458:, and
452:ataxia
392:. The
296:, and
243:gene.
220:gene.
129:enzyme
91:
1675:Other
832:S2CID
700:S2CID
447:apnea
198:Name
195:Gene
127:, an
894:MeSH
883:OMIM
824:PMID
816:ISSN
781:PMID
730:PMID
692:PMID
684:ISSN
470:and
441:and
388:and
356:and
339:and
274:GCSL
260:GCSH
250:GCSH
226:GCST
218:GLDC
208:GLDC
187:gene
944:of
808:doi
771:doi
767:170
676:doi
272:or
241:AMT
231:AMT
228:or
53:NKH
51:or
1719::
1659::
1633::
1537:G→
1470::
1368:G→
1337:OA
1333:BC
1232:G→
1140:G→
1120::
1074:G→
897::
886::
830:.
822:.
814:.
804:63
802:.
779:.
765:.
761:.
748:^
724:.
712:^
698:.
690:.
682:.
672:35
670:.
658:^
608:^
568:^
539:.
454:,
433:,
368:.
300:.
140:.
87:,
83:,
1620:/
1599:/
1564:)
1555:(
1550:/
1504:→
1488:)
1484:(
1478:)
1476:1
1474:(
1458:→
1444:/
1425:/
1381:/
1335:/
1236:→
1209:/
1144:→
1116:→
1078:→
1066:G
956:→
954:K
934:e
927:t
920:v
875:D
852:.
838:.
810::
787:.
773::
742:.
706:.
678::
634:.
602:.
414:(
372:'
31:.
20:)
Text is available under the Creative Commons Attribution-ShareAlike License. Additional terms may apply.
