136:. The conversion between proline and glutamine, and the reverse reaction controlled by different enzymes, are important factors required to maintain proper metabolism and protein production. A deficiency of either proline oxidase or pyrroline-5-carboxylate dehydrogenase results in a buildup of proline in the body. A deficiency of the latter enzyme leads to higher levels of proline and a buildup of the intermediate breakdown product pyrroline-5-carboxylate, causing the signs and symptoms of hyperprolinemia type II.Hyperprolinemia is inherited in an
37:
91:
217:
Dietary restriction of proline intake. Some findings also support vitamin D supplementation in patients with elevated proline. Long-term vitamin B6 supplementation may prevent a risk of seizures in the case of hyperprolinaemia II. The strong oxidative stress was detected in the brain tissue from rats
204:
Hyperprolinemia can also occur with other conditions, such as malnutrition or liver disease. In particular, individuals with conditions that cause elevated levels of lactic acid in the blood, such as lactic acidemia, are likely to have elevated
218:
with hyperprolinemia, thefore antioxidants such as vitamin E, vitamin C, and glutathione may be effective therapeutic agents in this disorder and should be used for hyperprolinemia in patients as soon as possible.
558:
543:
371:
Clelland, James D.; Read, Laura L.; Drouet, Valérie; Kaon, Angela; Kelly, Alexandra; Duff, Karen E.; Nadrich, Robert H.; Rajparia, Amit; Clelland, Catherine L. (June 2014).
634:
197:
Hyperprolinemia type II results in proline levels in the blood between 10 and 15 times higher than normal, and high levels of a related compound called
140:
pattern, which means two copies of the gene in each cell are altered. Most often, the parents of an individual with an autosomal recessive disorder are
715:
516:
Pyridoxal phosphate de-activation by pyrroline-5-carboxylic acid. Increased risk of vitamin B6 deficiency and seizures in hyperprolinemia type II
151:
gene have moderately elevated levels of proline in their blood, but these levels do not cause any health problems. Individuals with one altered
1101:
962:
920:
823:
985:
627:
469:
Bavaresco, CS; Streck, EL; Netto, CA; Wyse, AT (2005). "Chronic hyperprolinemia provokes a memory deficit in the Morris water maze task".
1283:
720:
201:. This rare form of the disorder may appear benign at times, but often involves seizures, convulsions, and intellectual disability.
1424:
1324:
620:
235:
132:. This enzyme helps to break down the pyrroline-5-carboxylate produced in the previous reaction, converting it to the amino acid
129:
79:
1429:
647:
1298:
1293:
121:. This enzyme begins the process of degrading proline by starting the reaction that converts it to pyrroline-5-carboxylate.
1215:
1434:
1051:
573:
803:
295:
1302:
293:
Onenli-Mungan, N; YĂĽksel, B; Elkay, M; TopaloÄźlu, AK; et al. (2004). "Type II hyperprolinemia: A case study".
1106:
1351:
1319:
1187:
279:
173:
It is difficult to determine the prevalence of hyperprolinemia type I, as many people with the condition are
373:"Vitamin D insufficiency and schizophrenia risk: Evaluation of hyperprolinemia as a mediator of association"
990:
1393:
725:
322:
Harries, J. T.; Piesowicz, A. T.; Seakins, J. W. T.; Francis, D. E. M.; Wolff, O. H. (1 February 1971).
144:
carriers, having only one copy of the altered gene, without having signs and symptoms of the disorder.
1383:
1362:
1034:
643:
240:
1388:
1278:
995:
967:
735:
181:
levels in their blood between 3 and 10 times the normal level. Some individuals with type I exhibit
682:
677:
584:
1183:
848:
198:
186:
1439:
1177:
1046:
828:
1332:
767:
147:
In about one-third of cases of hyperprolinemia, individuals carrying one copy of an altered
1193:
1143:
898:
655:
8:
1398:
1249:
1138:
798:
753:
730:
562:
137:
612:
420:
Mitsubuchi, Hiroshi; Nakamura, Kimitoshi; Matsumoto, Shirou; Endo, Fumio (August 2014).
1133:
1056:
1023:
692:
494:
446:
421:
397:
372:
348:
323:
567:
1403:
875:
595:
486:
451:
402:
353:
304:
51:
498:
1358:
1240:
1221:
1038:
1013:
478:
441:
433:
392:
384:
343:
335:
271:
56:
226:
A 2005 study on rats suggested that hyperprolinemia causes cognitive dysfunction.
1346:
1341:
1173:
1093:
697:
589:
388:
118:
75:
1253:
1207:
1018:
957:
687:
600:
515:
552:
482:
1418:
1288:
1147:
1080:
935:
1124:
940:
870:
865:
808:
490:
455:
406:
308:
174:
141:
535:
357:
339:
1273:
1116:
1367:
1336:
1128:
1005:
977:
745:
659:
68:
437:
1263:
912:
908:
857:
843:
133:
36:
1258:
1203:
1169:
1157:
1084:
1071:
819:
777:
94:
Hyperprolinemia has an autosomal recessive pattern of inheritance.
1161:
885:
815:
790:
781:
707:
422:"Biochemical and clinical features of hereditary hyperprolinemia"
292:
206:
182:
178:
100:
71:
44:
578:
90:
949:
668:
547:
419:
209:
levels, because lactic acid inhibits the breakdown of proline.
321:
106:
642:
468:
124:
Hyperprolinemia type II is caused by a mutation in the
370:
113:
Hyperprolinemia type I is caused by a mutation in the
525:
155:gene have normal levels of proline in their blood.
775:
1416:
716:3-hydroxy-3-methylglutaryl-CoA lyase deficiency
1102:6-Pyruvoyltetrahydropterin synthase deficiency
628:
324:"Low Proline Diet in Type 1 Hyperprolinaemia"
986:2-Methylbutyryl-CoA dehydrogenase deficiency
82:, causing a buildup of proline in the body.
1284:Carbamoyl phosphate synthetase I deficiency
721:3-Methylcrotonyl-CoA carboxylase deficiency
74:is not broken down properly by the enzymes
635:
621:
192:
177:. People with hyperprolinemia type I have
445:
396:
347:
168:
89:
963:Isobutyryl-CoA dehydrogenase deficiency
236:List of amino acid metabolism disorders
130:1-pyrroline-5-carboxylate dehydrogenase
1417:
789:
1299:Ornithine transcarbamylase deficiency
1294:N-Acetylglutamate synthase deficiency
616:
266:
264:
262:
260:
258:
256:
80:pyrroline-5-carboxylate dehydrogenase
67:is a condition which occurs when the
1216:Dopamine beta hydroxylase deficiency
286:
1052:Methylmalonyl-CoA mutase deficiency
13:
509:
253:
189:, or other neurological problems.
14:
1451:
804:Glutathione synthetase deficiency
521:
296:The Turkish Journal of Pediatrics
117:gene, which codes for the enzyme
328:Archives of Disease in Childhood
35:
1425:Amino acid metabolism disorders
1107:Tetrahydrobiopterin deficiency
462:
413:
364:
315:
1:
1430:Autosomal recessive disorders
1352:Lysinuric protein intolerance
726:3-Methylglutaconic aciduria 1
280:National Institutes of Health
246:
110:genes cause hyperprolinemia.
991:Beta-ketothiolase deficiency
389:10.1016/j.schres.2014.03.017
212:
158:
7:
1394:Ethylmalonic encephalopathy
229:
221:
85:
10:
1456:
1435:Disorders causing seizures
1384:2-Hydroxyglutaric aciduria
1363:Oculocerebrorenal syndrome
241:Inborn error of metabolism
1389:Aminoacylase 1 deficiency
1376:
1318:
1279:Argininosuccinic aciduria
1248:
1238:
1202:
1188:Hermansky–Pudlak syndrome
1156:
1115:
1092:
1079:
1069:
1032:
1004:
996:Maple syrup urine disease
976:
968:Maple syrup urine disease
948:
933:
907:
884:
856:
841:
766:
744:
736:Maple syrup urine disease
706:
667:
654:
529:
483:10.1007/s11011-005-2478-x
50:
43:
34:
26:
21:
678:Glutaric acidemia type 1
426:Pediatrics International
163:
1184:Oculocutaneous albinism
276:Genetics Home Reference
199:pyrroline-5-carboxylate
193:Hyperprolinemia type II
187:intellectual disability
1303:translocase deficiency
1047:Methylmalonic acidemia
829:Glycine encephalopathy
377:Schizophrenia Research
169:Hyperprolinemia type I
95:
30:Prolinemia, prolinuria
1333:Solute carrier family
648:amino acid metabolism
340:10.1136/adc.46.245.72
128:gene, for the enzyme
93:
1194:Waardenburg syndrome
1144:Tyrosinemia type III
899:Prolidase deficiency
1399:Fumarase deficiency
1139:Tyrosinemia type II
799:D-Glyceric acidemia
754:Hypertryptophanemia
731:Isovaleric acidemia
138:autosomal recessive
1134:Tyrosinemia type I
1057:Propionic acidemia
1024:Hypermethioninemia
693:Pipecolic acidemia
96:
1412:
1411:
1404:Trimethylaminuria
1314:
1313:
1310:
1309:
1234:
1233:
1230:
1229:
1065:
1064:
929:
928:
876:Urocanic aciduria
837:
836:
762:
761:
610:
609:
438:10.1111/ped.12420
272:"Hyperprolinemia"
98:Mutations in the
62:
61:
16:Medical condition
1447:
1359:Fanconi syndrome
1246:
1245:
1222:Brunner syndrome
1090:
1089:
1077:
1076:
1014:Cystathioninuria
946:
945:
854:
853:
787:
786:
773:
772:
665:
664:
637:
630:
623:
614:
613:
527:
526:
503:
502:
466:
460:
459:
449:
417:
411:
410:
400:
368:
362:
361:
351:
319:
313:
312:
290:
284:
283:
268:
57:Medical genetics
39:
19:
18:
1455:
1454:
1450:
1449:
1448:
1446:
1445:
1444:
1415:
1414:
1413:
1408:
1372:
1347:Iminoglycinuria
1342:Hartnup disease
1323:
1306:
1256:
1226:
1198:
1174:Ocular albinism
1152:
1111:
1094:Phenylketonuria
1061:
1028:
1000:
972:
939:
925:
903:
894:Hyperprolinemia
880:
849:α-ketoglutarate
847:
833:
824:GAMT deficiency
758:
740:
702:
698:Saccharopinuria
671:/straight chain
650:
641:
611:
606:
605:
538:
524:
512:
510:Further reading
507:
506:
471:Metab Brain Dis
467:
463:
418:
414:
369:
365:
320:
316:
291:
287:
270:
269:
254:
249:
232:
224:
215:
195:
171:
166:
161:
119:proline oxidase
88:
76:proline oxidase
65:Hyperprolinemia
22:Hyperprolinemia
17:
12:
11:
5:
1453:
1443:
1442:
1437:
1432:
1427:
1410:
1409:
1407:
1406:
1401:
1396:
1391:
1386:
1380:
1378:
1374:
1373:
1371:
1370:
1365:
1355:
1354:
1349:
1344:
1339:
1329:
1327:
1316:
1315:
1312:
1311:
1308:
1307:
1305:
1296:
1291:
1286:
1281:
1276:
1271:
1269:
1268:
1267:
1254:Hyperammonemia
1243:
1236:
1235:
1232:
1231:
1228:
1227:
1225:
1224:
1218:
1212:
1210:
1208:Norepinephrine
1200:
1199:
1197:
1196:
1191:
1181:
1166:
1164:
1154:
1153:
1151:
1150:
1141:
1136:
1131:
1121:
1119:
1113:
1112:
1110:
1109:
1104:
1098:
1096:
1087:
1074:
1067:
1066:
1063:
1062:
1060:
1059:
1054:
1049:
1043:
1041:
1030:
1029:
1027:
1026:
1021:
1019:Homocystinuria
1016:
1010:
1008:
1002:
1001:
999:
998:
993:
988:
982:
980:
974:
973:
971:
970:
965:
960:
958:Hypervalinemia
954:
952:
943:
931:
930:
927:
926:
924:
923:
917:
915:
905:
904:
902:
901:
896:
890:
888:
882:
881:
879:
878:
873:
868:
862:
860:
851:
839:
838:
835:
834:
832:
831:
826:
812:
811:
806:
801:
795:
793:
784:
770:
764:
763:
760:
759:
757:
756:
750:
748:
742:
741:
739:
738:
733:
728:
723:
718:
712:
710:
704:
703:
701:
700:
695:
690:
688:Hyperlysinemia
685:
680:
674:
672:
662:
652:
651:
640:
639:
632:
625:
617:
608:
607:
604:
603:
592:
581:
570:
555:
539:
534:
533:
531:
530:Classification
523:
522:External links
520:
519:
518:
511:
508:
505:
504:
461:
432:(4): 492–496.
412:
363:
334:(245): 72–81.
314:
303:(2): 167–169.
285:
251:
250:
248:
245:
244:
243:
238:
231:
228:
223:
220:
214:
211:
194:
191:
170:
167:
165:
162:
160:
157:
87:
84:
60:
59:
54:
48:
47:
41:
40:
32:
31:
28:
24:
23:
15:
9:
6:
4:
3:
2:
1452:
1441:
1440:Rare diseases
1438:
1436:
1433:
1431:
1428:
1426:
1423:
1422:
1420:
1405:
1402:
1400:
1397:
1395:
1392:
1390:
1387:
1385:
1382:
1381:
1379:
1375:
1369:
1366:
1364:
1360:
1357:
1356:
1353:
1350:
1348:
1345:
1343:
1340:
1338:
1334:
1331:
1330:
1328:
1326:
1321:
1317:
1304:
1300:
1297:
1295:
1292:
1290:
1289:Citrullinemia
1287:
1285:
1282:
1280:
1277:
1275:
1272:
1270:
1265:
1262:
1261:
1260:
1255:
1251:
1247:
1244:
1242:
1237:
1223:
1219:
1217:
1214:
1213:
1211:
1209:
1205:
1201:
1195:
1192:
1189:
1185:
1182:
1179:
1175:
1171:
1168:
1167:
1165:
1163:
1159:
1155:
1149:
1148:Hawkinsinuria
1145:
1142:
1140:
1137:
1135:
1132:
1130:
1126:
1123:
1122:
1120:
1118:
1114:
1108:
1105:
1103:
1100:
1099:
1097:
1095:
1091:
1088:
1086:
1082:
1081:Phenylalanine
1078:
1075:
1073:
1068:
1058:
1055:
1053:
1050:
1048:
1045:
1044:
1042:
1040:
1036:
1031:
1025:
1022:
1020:
1017:
1015:
1012:
1011:
1009:
1007:
1003:
997:
994:
992:
989:
987:
984:
983:
981:
979:
975:
969:
966:
964:
961:
959:
956:
955:
953:
951:
947:
944:
942:
937:
936:propionyl-CoA
932:
922:
919:
918:
916:
914:
910:
906:
900:
897:
895:
892:
891:
889:
887:
883:
877:
874:
872:
869:
867:
864:
863:
861:
859:
855:
852:
850:
845:
840:
830:
827:
825:
821:
817:
814:
813:
810:
807:
805:
802:
800:
797:
796:
794:
792:
788:
785:
783:
779:
774:
771:
769:
765:
755:
752:
751:
749:
747:
743:
737:
734:
732:
729:
727:
724:
722:
719:
717:
714:
713:
711:
709:
705:
699:
696:
694:
691:
689:
686:
684:
681:
679:
676:
675:
673:
670:
666:
663:
661:
657:
653:
649:
645:
638:
633:
631:
626:
624:
619:
618:
615:
602:
598:
597:
593:
591:
587:
586:
582:
580:
576:
575:
571:
569:
565:
564:
560:
556:
554:
550:
549:
545:
541:
540:
537:
532:
528:
517:
514:
513:
500:
496:
492:
488:
484:
480:
476:
472:
465:
457:
453:
448:
443:
439:
435:
431:
427:
423:
416:
408:
404:
399:
394:
390:
386:
382:
378:
374:
367:
359:
355:
350:
345:
341:
337:
333:
329:
325:
318:
310:
306:
302:
298:
297:
289:
281:
277:
273:
267:
265:
263:
261:
259:
257:
252:
242:
239:
237:
234:
233:
227:
219:
210:
208:
202:
200:
190:
188:
184:
180:
176:
156:
154:
150:
145:
143:
139:
135:
131:
127:
122:
120:
116:
111:
109:
108:
103:
102:
92:
83:
81:
77:
73:
70:
66:
58:
55:
53:
49:
46:
42:
38:
33:
29:
25:
20:
1241:oxaloacetate
1125:Alkaptonuria
941:succinyl-CoA
893:
871:Histidinemia
866:Carnosinemia
809:Sarcosinemia
644:Inborn error
594:
583:
572:
557:
542:
477:(1): 73–80.
474:
470:
464:
429:
425:
415:
383:(1): 15–22.
380:
376:
366:
331:
327:
317:
300:
294:
288:
275:
225:
216:
203:
196:
175:asymptomatic
172:
152:
148:
146:
142:heterozygous
125:
123:
114:
112:
105:
99:
97:
64:
63:
1274:Argininemia
1117:Tyrosinemia
27:Other names
1419:Categories
1368:Cystinosis
1337:Cystinuria
1250:Urea cycle
1129:Ochronosis
1006:Methionine
978:Isoleucine
746:Tryptophan
660:acetyl-CoA
596:DiseasesDB
247:References
69:amino acid
1325:IE of RTT
1320:Transport
1264:aspartate
1220:reverse:
913:glutamine
909:Glutamate
858:Histidine
844:glutamate
213:Treatment
159:Diagnosis
134:glutamate
52:Specialty
1259:arginine
1204:Tyrosine
1170:Albinism
1158:Tyrosine
1085:tyrosine
1072:fumarate
1033:General
820:Creatine
778:pyruvate
499:27367341
491:15918552
456:24931297
407:24787057
309:15214748
230:See also
222:Research
183:seizures
86:Genetics
1162:Melanin
886:Proline
816:Glycine
791:Glycine
782:citrate
708:Leucine
590:C538385
447:4282441
398:4044915
358:5555491
349:1647575
207:proline
179:proline
153:ALDH4A1
126:ALDH4A1
101:ALDH4A1
72:proline
45:Proline
950:Valine
921:SSADHD
683:type 2
669:Lysine
579:239500
497:
489:
454:
444:
405:
395:
356:
346:
307:
1377:Other
601:29674
568:270.8
553:E72.5
495:S2CID
164:Types
149:PRODH
115:PRODH
107:PRODH
585:MeSH
574:OMIM
563:9-CM
487:PMID
452:PMID
403:PMID
354:PMID
305:PMID
104:and
646:of
559:ICD
544:ICD
479:doi
442:PMC
434:doi
393:PMC
385:doi
381:156
344:PMC
336:doi
78:or
1421::
1361::
1335::
1239:G→
1172::
1070:G→
1039:OA
1035:BC
934:G→
842:G→
822::
776:G→
599::
588::
577::
566::
551::
548:10
493:.
485:.
475:20
473:.
450:.
440:.
430:56
428:.
424:.
401:.
391:.
379:.
375:.
352:.
342:.
332:46
330:.
326:.
301:46
299:.
278:.
274:.
255:^
185:,
1322:/
1301:/
1266:)
1257:(
1252:/
1206:→
1190:)
1186:(
1180:)
1178:1
1176:(
1160:→
1146:/
1127:/
1083:/
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768:G
658:→
656:K
636:e
629:t
622:v
561:-
546:-
536:D
501:.
481::
458:.
436::
409:.
387::
360:.
338::
311:.
282:.
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