576:
730:
was restriction of dietary protein and all other care was simply management of complications. In the past twenty years, new medications, enzyme replacement, gene therapy, and organ transplantation have become available and beneficial for many previously untreatable disorders. Some of the more common
1305:
Navarrete-MartĂnez, Juana InĂ©s; LimĂłn-Rojas, Ana Elena; Gaytán-GarcĂa, Maria de JesĂşs; Reyna-Figueroa, JesĂşs; Wakida-Kusunoki, Guillermo; Delgado-Calvillo, Ma. del RocĂo; CantĂş-Reyna, Consuelo; Cruz-Camino, HĂ©ctor; Cervantes-Barragán, David
Eduardo (May 2017). "Newborn screening for six lysosomal
334:
Because of the enormous number of these diseases the wide range of systems affected badly, nearly every "presenting complaint" to a healthcare provider may have a congenital metabolic disease as a possible cause, especially in childhood and adolescence. The following are examples of potential
609:(detects excessive amounts of specific amino acids in blood) The dried blood spot can be used for multianalyte testing using Tandem Mass Spectrometry (MS/MS). This given an indication for a disorder. The same has to be further confirmed by enzyme assays, IEX-Ninhydrin, GC/MS or DNA Testing.
709:
A 2015 review reported that even with all these diagnostic tests, there are cases when "biochemical testing, gene sequencing, and enzymatic testing can neither confirm nor rule out an IEM, resulting in the need to rely on the patient's clinical course". A 2021 review showed that several
57:). In most of the disorders, problems arise due to accumulation of substances which are toxic or interfere with normal function, or due to the effects of reduced ability to synthesize essential compounds. Inborn errors of metabolism are often referred to as
4235:
4134:
4075:
115:. In recent decades, hundreds of new inherited disorders of metabolism have been discovered and the categories have proliferated. Following are some of the major classes of congenital metabolic diseases, with prominent examples of each class.
1509:
1490:
1467:
1407:
Torricelli, P; Antonelli, F; Ferorelli, P; Borromeo, I; Shevchenko, A; Lenzi, S; De
Martino, A (March 2020). "Oral nutritional supplement prevents weight loss and reduces side effects in patients in advanced lung cancer chemotherapy".
3716:
4228:
3907:
4113:
4065:
4060:
4221:
1612:
568:-based technology with an integrated analytics system has now made it possible to test a newborn for over 100 mm genetic metabolic disorders. Because of the multiplicity of conditions, many different
3709:
4080:
3102:
3971:
3900:
3820:
3702:
2967:
3108:
2165:
3893:
1605:
869:, the overall incidence of the inborn errors of metabolism were estimated to be 40 per 100,000 live births or 1 in 2,500 births, overall representing more than approximately 15% of
3096:
221:
3536:
3264:
3090:
1799:
3757:
3484:
255:
3729:
244:
3176:
1598:
1590:
1118:
Geerdink, R.B; Niessen, W.M.A; Brinkman, U.A.Th (March 2001). "Mass spectrometric confirmation criterion for product-ion spectra generated in flow-injection analysis".
4295:
3934:
3365:
2246:
4139:
3118:
3048:
2632:
2493:
2451:
2960:
2354:
3784:
3038:
2516:
2158:
2077:
130:
3033:
2814:
2251:
2093:
197:
169:
4085:
3870:
3805:
1262:
Applegarth, Derek A.; Toone, Jennifer R.; Lowry, R. Brian (1 January 2000). "Incidence of Inborn Errors of
Metabolism in British Columbia, 1969–1996".
646:
565:
3257:
2953:
2855:
1694:
1625:
120:
4043:
3477:
2151:
211:
138:
4319:
2178:
1194:
873:
in the population. While a
Mexican study established an overall incidence of 3.4:1,000 live newborns and a carrier detection of 6.8:1,000 NBS.
4278:
3043:
2829:
2824:
1389:
1358:
1102:
1061:
270:
997:
4361:
3207:
3140:
2746:
2004:
1041:
710:
neurometabolic disorders converge on common neurochemical mechanisms that interfere with biological mechanisms also considered central in
3991:
3916:
3250:
2582:
264:
78:
3470:
3311:
2049:
3981:
3752:
2334:
1893:
1306:
storage disorders in a cohort of
Mexican patients: Three-year findings from a screening program in a closed Mexican health system".
572:
are used for screening. An abnormal result is often followed by a subsequent "definitive test" to confirm the suspected diagnosis.
3277:
2980:
2833:
1943:
1911:
1899:
1848:
3226:
4265:
4118:
3326:
2054:
2044:
1905:
1854:
1842:
1769:
1689:
174:
4340:
4335:
4028:
3800:
3570:
3122:
3016:
2984:
2637:
1998:
1803:
275:
3420:
2718:
3619:
3605:
3398:
3331:
3316:
3306:
2882:
2850:
1993:
4144:
3946:
3541:
2521:
2127:
236:
3654:
3649:
3393:
2924:
2256:
714:
pathophysiology and treatment. This highlights the importance of close collaboration between health services to avoid
4198:
3674:
2945:
4244:
3725:
3451:
3273:
2976:
2914:
2893:
2565:
2174:
2009:
1621:
310:
203:
3446:
289:
4366:
4173:
3590:
2919:
2809:
2526:
2498:
2266:
2069:
1933:
912:
154:
112:
65:. Another term used to describe these disorders is "enzymopathies". This term was created following the study of
3775:
320:
250:
4123:
3511:
3357:
3182:
2213:
2208:
2082:
1794:
1635:
1528:
952:
759:
715:
359:
159:
125:
50:
4252:
4213:
3566:
3380:
3321:
2714:
2379:
1715:
504:
4302:
4273:
3084:
2998:
2708:
2577:
2359:
1704:
841:
3834:
2863:
2298:
2114:
2014:
1764:
939:
870:
845:
540:
485:
66:
3644:
4168:
3966:
3388:
3301:
3297:
3055:
2724:
2674:
2429:
2186:
1153:
Vernon, Hilary J. (1 August 2015). "Inborn Errors of
Metabolism: Advances in Diagnosis and Therapy".
925:
596:
587:
315:
755:
4371:
4193:
3600:
3348:
2929:
2780:
2669:
2329:
2284:
2261:
1670:
1665:
1513:
744:
727:
520:
514:
94:
54:
3941:
3924:
3767:
3242:
3159:
2664:
2587:
2554:
2223:
1917:
1865:
1433:
1287:
1221:
853:
827:
823:
813:
783:
631:
354:
303:
3694:
3737:
3507:
3441:
2934:
2406:
1972:
1557:
1480:
1476:
1425:
1395:
1385:
1364:
1354:
1323:
1279:
1213:
1170:
1135:
1098:
1067:
1057:
1022:
656:
561:
548:
1484:
3595:
2889:
2771:
2752:
2569:
2544:
1709:
1698:
1417:
1315:
1271:
1203:
1162:
1127:
1090:
866:
787:
510:
415:
411:
186:
74:
1190:"ADHD symptoms in neurometabolic diseases: Underlying mechanisms and clinical implications"
1016:
4004:
3986:
3854:
3849:
3561:
3370:
2877:
2872:
2704:
2624:
2424:
2228:
2036:
888:
818:
804:
740:
569:
427:
350:
144:
34:
1571:
2143:
81:, based on his studies on the nature and inheritance of alkaptonuria. His seminal text,
4023:
3976:
3679:
3289:
3151:
3132:
3066:
2784:
2738:
2549:
2488:
2218:
1876:
1860:
1743:
1680:
1629:
1585:
536:
456:
447:
371:
340:
3885:
1131:
4355:
3779:
3412:
2819:
2678:
2611:
2466:
2109:
2087:
1949:
1437:
1225:
1166:
831:
652:
498:
473:
283:
215:
1568:
1522:
1518:
1291:
1208:
1189:
3281:
2655:
2471:
2401:
2396:
2339:
1834:
1784:
1656:
898:
836:
763:
642:
617:
606:
544:
490:
481:
477:
423:
398:
388:
192:
182:
108:
100:
985:
17:
1533:
812:
Intermediary metabolites, compounds, or drugs that facilitate or retard specific
4095:
4038:
3999:
3957:
3810:
3436:
2804:
2647:
1552:
1319:
980:
892:
779:
703:
694:
613:
469:
460:
297:
149:
1421:
673:
Specific diagnostic tests (or focused screening for a small set of disorders):
99:
Traditionally the inherited metabolic diseases were classified as disorders of
3199:
2898:
2867:
2659:
2536:
2508:
2276:
2190:
2121:
1981:
1399:
1094:
1026:
775:
666:
635:
600:
104:
38:
1368:
1071:
4055:
3624:
3516:
3502:
3462:
3027:
2794:
2443:
2439:
2388:
2374:
1780:
1563:
1503:
1499:
627:
593:
524:
402:
384:
230:
1429:
1327:
1283:
1275:
1217:
1174:
1139:
69:, a science based on the study of the enzymes and their products. Finally,
726:
In the middle of the 20th century the principal treatment for some of the
41:
disorders of enzyme activities. The majority are due to defects of single
4160:
4105:
4051:
3338:
3218:
2789:
2734:
2700:
2688:
2615:
2602:
2350:
2308:
1929:
1825:
1754:
800:
794:
494:
452:
443:
439:
380:
367:
346:
1459:
1188:
Cannon Homaei S, Barone H, Kleppe R, Betari N, Reif A, Haavik J (2021).
575:
4248:
4014:
2692:
2416:
2346:
2321:
2312:
2238:
1968:
1821:
1734:
1644:
739:
E.g., reduction of dietary protein remains a mainstay of treatment for
363:
4261:
2480:
2199:
2131:
1989:
1730:
1494:
1471:
1382:
Manual of traditional radiographic technique, methodology and anatomy
686:
678:
662:
530:
433:
419:
375:
46:
1378:
Manuale di tecnica, metodologia e anatomia radiografica tradizionali
699:
Skin biopsy and fibroblast cultivation for specific enzyme testing
690:
682:
621:
574:
464:
3815:
3493:
2025:
786:
and enables normal growth and development in combination with a
711:
394:
42:
4217:
3889:
3698:
3466:
3246:
2949:
2147:
1594:
803:
supplementation benefits several types of disorders that cause
77:(1857–1936), in 1908. He is known for work that prefigured the
560:
Dozens of congenital metabolic diseases are now detectable by
4086:
Apparent mineralocorticoid excess syndrome/11β-dehydrogenase
758:
of cornstarch several times a day helps prevent people with
564:
tests, especially expanded testing using mass spectrometry.
3972:
Hydrops-ectopic calcification-moth-eaten skeletal dysplasia
3821:
Mitochondrial neurogastrointestinal encephalopathy syndrome
1946:(Pompe's disease, glucosidase deficiency, formerly GSD-IIa)
335:
manifestations affecting each of the major organ systems.
2057:(von Gierke's disease, glucose 6-phosphatase deficiency)
1902:(Hers' disease, liver glycogen phosphorylase deficiency)
998:"Inherited metabolic disorders - Symptoms and causes"
583:
Common screening tests used in the last sixty years:
222:
Medium-chain acyl-coenzyme A dehydrogenase deficiency
73:
were studied for the first time by
British physician
2126:
Fatal congenital nonlysosomal cardiac glycogenosis (
1449:
1056:] (in Italian). Elsevier srl. pp. 361–386.
4328:
4312:
4287:
4259:
4186:
4158:
4103:
4094:
4022:
4013:
3955:
3923:
3863:
3842:
3833:
3793:
3766:
3758:
3745:
3736:
3663:
3633:
3618:
3579:
3562:
Gunther disease/congenital erythropoietic porphyria
3550:
3525:
3501:
3429:
3411:
3379:
3356:
3347:
3288:
3217:
3196:
3169:
3150:
3131:
3076:
3065:
3015:
3008:
2991:
2907:
2849:
2779:
2769:
2733:
2687:
2646:
2623:
2610:
2600:
2563:
2535:
2507:
2479:
2464:
2438:
2415:
2387:
2372:
2320:
2306:
2297:
2275:
2237:
2198:
2185:
2102:
2068:
2035:
1980:
1967:
1927:
1884:
1875:
1833:
1820:
1778:
1752:
1742:
1729:
1679:
1655:
1643:
1543:
1453:
579:
Gas chromatography–mass spectrometry (GCMS) machine
49:that facilitate conversion of various substances (
3177:3-hydroxyacyl-coenzyme A dehydrogenase deficiency
2001:(Tarui's disease, phosphofructokinase deficiency)
1851:(Andersen's disease, branching enzyme deficiency)
4296:Pantothenate kinase-associated neurodegeneration
1908:(McArdle's disease, myophosphorylase deficiency)
1376:Mazzucato, Fernando; Giovagnoni, Andrea (2019).
669:analysis by gas chromatography-mass spectrometry
3366:Lecithin cholesterol acyltransferase deficiency
2247:3-hydroxy-3-methylglutaryl-CoA lyase deficiency
1896:(Cori's disease, debranching enzyme deficiency)
3119:Mitochondrial trifunctional protein deficiency
2633:6-Pyruvoyltetrahydropterin synthase deficiency
4229:
3901:
3710:
3478:
3258:
2961:
2159:
1606:
8:
3785:Adenine phosphoribosyltransferase deficiency
2517:2-Methylbutyryl-CoA dehydrogenase deficiency
2078:Glucose-6-phosphate dehydrogenase deficiency
1054:Pediatrics: Principles and Clinical Practice
4140:17β-Hydroxysteroid dehydrogenase deficiency
2815:Carbamoyl phosphate synthetase I deficiency
2252:3-Methylcrotonyl-CoA carboxylase deficiency
2094:6-phosphogluconate dehydrogenase deficiency
198:Combined malonic and methylmalonic aciduria
170:Carbamoyl phosphate synthetase I deficiency
4236:
4222:
4214:
4135:3β-Hydroxysteroid dehydrogenase deficiency
4100:
4019:
3908:
3894:
3886:
3871:Dihydropyrimidine dehydrogenase deficiency
3839:
3806:Purine nucleoside phosphorylase deficiency
3742:
3717:
3703:
3695:
3630:
3522:
3485:
3471:
3463:
3353:
3312:Familial apoprotein CII deficiency/Type Ib
3265:
3251:
3243:
3073:
3012:
2968:
2954:
2946:
2776:
2620:
2607:
2476:
2384:
2317:
2303:
2195:
2166:
2152:
2144:
1977:
1881:
1830:
1749:
1739:
1652:
1613:
1599:
1591:
1450:
1345:Price, Nicholas C; Stevens, Lewis (1996).
166:Urea Cycle Disorder or Urea Cycle Defects
2026:Mitochondrial pyruvate carrier deficiency
1207:
175:Citrullinemia type II (citrin deficiency)
4149:Pseudovaginal perineoscrotal hypospadias
3327:Familial dysbetalipoproteinemia/Type III
1695:Inborn errors of renal tubular transport
875:
4044:Glucocorticoid remediable aldosteronism
2494:Isobutyryl-CoA dehydrogenase deficiency
972:
850:Treatment of symptoms and complications
751:Dietary supplementation or replacement
590:(detects abnormal metabolites in urine)
4320:Familial isolated vitamin E deficiency
3317:Familial hypercholesterolemia/Type IIa
1195:Neuroscience and Biobehavioral Reviews
1044:[Inborn errors of metabolism]
4279:Holocarboxylase synthetase deficiency
3332:Familial hypertriglyceridemia/Type IV
3307:Lipoprotein lipase deficiency/Type Ia
2830:Ornithine transcarbamylase deficiency
2825:N-Acetylglutamate synthase deficiency
1257:
1255:
1050:Pediatria: principi e Pratica clinica
271:lipoid congenital adrenal hyperplasia
7:
3141:2,4 Dienoyl-CoA reductase deficiency
2747:Dopamine beta hydroxylase deficiency
2005:Triosephosphate isomerase deficiency
1952:(LAMP2 deficiency, formerly GSD-IIb)
1253:
1251:
1249:
1247:
1245:
1243:
1241:
1239:
1237:
1235:
887:Disease involving amino acids (e.g.
647:gas chromatography–mass spectrometry
566:Gas chromatography–mass spectrometry
121:Disorders of carbohydrate metabolism
89:Classification of metabolic diseases
3917:Inborn errors of steroid metabolism
2583:Methylmalonyl-CoA mutase deficiency
2019:Phosphoglucose isomerase deficiency
1920:(PGM1-CDG, CDG1T, formerly GSD-XIV)
1087:Terapia delle malattie neurologiche
731:or promising therapies are listed:
638:patterns and quantitative analysis)
2050:Fructose bisphosphatase deficiency
2022:Phosphoglycerate kinase deficiency
1042:"Errori congeniti del metabolismo"
630:post-column derivitization liquid
25:
3753:Adenylosuccinate lyase deficiency
2335:Glutathione synthetase deficiency
1914:(phosphorylase kinase deficiency)
1308:Molecular Genetics and Metabolism
343:, failure to grow, loss of weight
3452:APOA1 familial renal amyloidosis
3322:Combined hyperlipidemia/Type IIb
1944:Glycogen storage disease type II
1353:] (in Italian). A. Delfino.
1167:10.1001/jamapediatrics.2015.0754
778:prevents the formation of toxic
79:"one gene–one enzyme" hypothesis
2985:fatty-acid metabolism disorders
2045:Pyruvate carboxylase deficiency
1855:Adult polyglucosan body disease
1690:Glucose-galactose malabsorption
1209:10.1016/j.neubiorev.2021.11.012
4341:Molybdenum cofactor deficiency
4336:Tetrahydrobiopterin deficiency
3801:Adenosine deaminase deficiency
3571:Hepatoerythropoietic porphyria
3123:Acute fatty liver of pregnancy
2638:Tetrahydrobiopterin deficiency
1845:(glycogen synthase deficiency)
276:congenital adrenal hyperplasia
1:
3620:Hereditary hyperbilirubinemia
3606:Erythropoietic protoporphyria
3399:Chylomicron retention disease
2883:Lysinuric protein intolerance
2257:3-Methylglutaconic aciduria 1
1918:Phosphoglucomutase deficiency
1586:Portal of Chemistry (Italian)
1132:10.1016/s0021-9673(00)01221-8
1085:Sghirlanzoni, Angelo (2010).
930:~3 to 4 per 100,000 of births
63:inherited metabolic disorders
59:congenital metabolic diseases
3947:Mevalonate kinase deficiency
3730:purine–pyrimidine metabolism
3542:Acute intermittent porphyria
3358:Hypoalphalipoproteinemia/HDL
2522:Beta-ketothiolase deficiency
2128:AMP-activated protein kinase
1384:] (in Italian). Piccin.
1040:Bartolozzi, Giorgio (2008).
1015:Garrod, Archibald E (1923).
612:Quantitative measurement of
237:acute intermittent porphyria
4362:Inborn errors of metabolism
3394:Apolipoprotein B deficiency
3381:Hypobetalipoproteinemia/LDL
2925:Ethylmalonic encephalopathy
1320:10.1016/j.ymgme.2017.03.001
1120:Journal of Chromatography A
1018:Inborn errors of metabolism
986:Inborn errors of metabolism
401:, lacking of pigmentation,
311:Lysosomal storage disorders
204:2-hydroxyglutaric acidurias
83:Inborn Errors of Metabolism
71:inborn errors of metabolism
31:Inborn errors of metabolism
4388:
4114:17α-Hydroxylase deficiency
3992:Smith–Lemli–Opitz syndrome
3982:Conradi–Hünermann syndrome
2915:2-Hydroxyglutaric aciduria
2894:Oculocerebrorenal syndrome
2090:(Transketolase deficiency)
2010:Pyruvate kinase deficiency
1422:10.1007/s00726-020-02822-7
901:, or a urea cycle disease
113:lysosomal storage diseases
92:
4174:Aromatase excess syndrome
4145:5α-reductase 2 deficiency
3591:Hereditary coproporphyria
3421:Barraquer–Simons syndrome
2920:Aminoacylase 1 deficiency
2810:Argininosuccinic aciduria
2719:Hermansky–Pudlak syndrome
2527:Maple syrup urine disease
2499:Maple syrup urine disease
2267:Maple syrup urine disease
2070:Pentose phosphate pathway
1636:glycogen storage diseases
1095:10.1007/978-88-470-1120-5
913:Lysosomal storage disease
897:primary lactic acidosis,
881:
760:glycogen storage diseases
503:Unusual facial features,
155:maple syrup urine disease
85:, was published in 1923.
27:Class of genetic diseases
3935:HMG-CoA lyase deficiency
3227:Sjögren–Larsson syndrome
3183:Glutaric acidemia type 2
2209:Glutaric acidemia type 1
2083:Transaldolase deficiency
1351:Principles of enzymology
981:MedlinePlus Encyclopedia
953:Glycogen storage disease
938:Respiratory chain-based
762:from becoming seriously
505:congenital malformations
420:low red blood cell count
160:glutaric acidemia type 1
126:glycogen storage disease
3655:Lucey–Driscoll syndrome
3650:Crigler–Najjar syndrome
3567:Porphyria cutanea tarda
2715:Oculocutaneous albinism
1868:(glycogenin deficiency)
1716:Fanconi-Bickel syndrome
1626:carbohydrate metabolism
1347:Principi di enzimologia
4303:Methylmalonic acidemia
4274:Biotinidase deficiency
4199:Antley–Bixler syndrome
4119:17,20-Lyase deficiency
3675:Dubin–Johnson syndrome
3339:Xanthoma/Xanthomatosis
3085:Acyl CoA dehydrogenase
2999:Biotinidase deficiency
2834:translocase deficiency
2578:Methylmalonic acidemia
2360:Glycine encephalopathy
1705:Fructose malabsorption
1276:10.1542/peds.105.1.e10
957:2.3 per 100,000 births
828:Acid-alpha glucosidase
716:clinical overshadowing
580:
33:form a large class of
3835:Pyrimidine metabolism
2864:Solute carrier family
2179:amino acid metabolism
2115:Primary hyperoxaluria
2015:Aldolase A deficiency
1765:Essential fructosuria
1632:metabolism disorders
944:~3 per 100,000 births
940:mitochondrial disease
904:24 per 100,000 births
871:single gene disorders
846:organ transplantation
578:
541:adrenal insufficiency
509:Excessive breathing (
486:myocardial infarction
403:excessive hair growth
290:Kearns–Sayre syndrome
67:biodynamic enzymology
4169:Aromatase deficiency
4076:CAH 3β-dehydrogenase
3967:7-Dehydrocholesterol
3776:Lesch–Nyhan syndrome
3528:early mitochondrial:
3496:metabolism disorders
3389:Abetalipoproteinemia
3302:Hypertriglyceridemia
3298:Hypercholesterolemia
3103:Long-chain 3-hydroxy
3056:Adrenoleukodystrophy
2725:Waardenburg syndrome
2675:Tyrosinemia type III
2430:Prolidase deficiency
1770:Fructose intolerance
1666:Congenital alactasia
926:Peroxisomal disorder
917:8 per 100,000 births
879:Type of inborn error
745:amino acid disorders
736:Dietary restriction
728:amino acid disorders
597:paper chromatography
588:Ferric chloride test
428:enlarged lymph nodes
408:Dental abnormalities
321:Niemann–Pick disease
251:Lesch–Nyhan syndrome
245:purine or pyrimidine
212:fatty acid oxidation
4329:Nonvitamin cofactor
4245:Metabolic disorders
4194:X-linked ichthyosis
4066:CAH 11β-hydroxylase
4061:CAH 17α-hydroxylase
3601:Variegate porphyria
3582:late mitochondrial:
3349:Hypolipoproteinemia
2930:Fumarase deficiency
2670:Tyrosinemia type II
2330:D-Glyceric acidemia
2285:Hypertryptophanemia
2262:Isovaleric acidemia
1671:Sucrose intolerance
519:Abnormal behavior,
515:respiratory failure
453:Excessive urination
360:Developmental delay
347:Ambiguous genitalia
95:Metabolic disorders
4081:CAH 21-hydroxylase
3942:Hyper-IgD syndrome
3768:Nucleotide salvage
3645:Gilbert's syndrome
3447:Lipoid proteinosis
3160:Propionic acidemia
2665:Tyrosinemia type I
2588:Propionic acidemia
2555:Hypermethioninemia
2224:Pipecolic acidemia
1718:(GLUT2 deficiency)
1712:(GLUT1 deficiency)
1544:External resources
854:Prenatal diagnosis
824:Enzyme replacement
814:metabolic pathways
784:Tyrosinemia Type I
782:for patients with
634:(detects abnormal
632:ion chromatography
599:(detects abnormal
581:
470:Low blood pressure
416:low platelet count
355:precocious puberty
330:Signs and symptoms
304:Zellweger syndrome
18:Metabolic Diseases
4349:
4348:
4251:, coenzymes, and
4211:
4210:
4207:
4206:
4182:
4181:
3883:
3882:
3879:
3878:
3829:
3828:
3738:Purine metabolism
3692:
3691:
3688:
3687:
3614:
3613:
3460:
3459:
3442:Adiposis dolorosa
3407:
3406:
3240:
3239:
3236:
3235:
3192:
3191:
2943:
2942:
2935:Trimethylaminuria
2845:
2844:
2841:
2840:
2765:
2764:
2761:
2760:
2596:
2595:
2460:
2459:
2407:Urocanic aciduria
2368:
2367:
2293:
2292:
2141:
2140:
2064:
2063:
2028:(MPC1 deficiency)
1963:
1962:
1959:
1958:
1816:
1815:
1812:
1811:
1725:
1724:
1581:
1580:
1391:978-88-299-2959-7
1360:978-88-7287-100-3
1104:978-88-470-1119-9
1063:978-88-214-3204-0
964:
963:
895:), organic acids,
657:mass spectrometry
562:newborn screening
549:diabetes mellitus
491:Liver enlargement
405:, lumps and bumps
316:Gaucher's disease
187:organic acidurias
16:(Redirected from
4379:
4367:Medical genetics
4238:
4231:
4224:
4215:
4101:
4020:
3910:
3903:
3896:
3887:
3840:
3743:
3719:
3712:
3705:
3696:
3668:
3638:
3631:
3596:Harderoporphyria
3584:
3555:
3530:
3523:
3487:
3480:
3473:
3464:
3354:
3278:lipid metabolism
3267:
3260:
3253:
3244:
3208:Malonic aciduria
3162:(PCC deficiency)
3074:
3013:
2981:lipid metabolism
2970:
2963:
2956:
2947:
2890:Fanconi syndrome
2777:
2753:Brunner syndrome
2621:
2608:
2545:Cystathioninuria
2477:
2385:
2318:
2304:
2196:
2168:
2161:
2154:
2145:
1978:
1937:
1887:
1882:
1831:
1788:
1758:
1750:
1740:
1699:Renal glycosuria
1653:
1615:
1608:
1601:
1592:
1451:
1441:
1403:
1372:
1332:
1331:
1302:
1296:
1295:
1259:
1230:
1229:
1211:
1185:
1179:
1178:
1150:
1144:
1143:
1115:
1109:
1108:
1082:
1076:
1075:
1047:
1037:
1031:
1030:
1012:
1006:
1005:
994:
988:
977:
876:
867:British Columbia
788:low-protein diet
570:diagnostic tests
533:weakness, cramps
511:hyperventilation
412:Immunodeficiency
256:AMPD1 Deficiency
75:Archibald Garrod
35:genetic diseases
21:
4387:
4386:
4382:
4381:
4380:
4378:
4377:
4376:
4352:
4351:
4350:
4345:
4324:
4308:
4283:
4255:
4242:
4212:
4203:
4178:
4154:
4127:
4090:
4026:
4009:
4005:Desmosterolosis
3987:Lathosterolosis
3951:
3926:
3919:
3914:
3884:
3875:
3859:
3855:Miller syndrome
3850:Orotic aciduria
3825:
3789:
3762:
3732:
3723:
3693:
3684:
3664:
3659:
3634:
3622:
3610:
3580:
3575:
3551:
3546:
3526:
3514:
3506:
3497:
3491:
3461:
3456:
3425:
3403:
3375:
3371:Tangier disease
3343:
3284:
3271:
3241:
3232:
3213:
3198:
3188:
3165:
3146:
3127:
3109:Very long-chain
3068:
3061:
3018:
3004:
2987:
2974:
2944:
2939:
2903:
2878:Iminoglycinuria
2873:Hartnup disease
2854:
2837:
2787:
2757:
2729:
2705:Ocular albinism
2683:
2642:
2625:Phenylketonuria
2592:
2559:
2531:
2503:
2470:
2456:
2434:
2425:Hyperprolinemia
2411:
2380:α-ketoglutarate
2378:
2364:
2355:GAMT deficiency
2289:
2271:
2233:
2229:Saccharopinuria
2202:/straight chain
2181:
2172:
2142:
2137:
2098:
2060:
2037:Gluconeogenesis
2031:
1955:
1928:
1923:
1886:Extralysosomal:
1885:
1871:
1808:
1804:GALE deficiency
1800:GALT deficiency
1795:GALK deficiency
1779:
1774:
1753:
1721:
1710:De Vivo Disease
1675:
1649:(extracellular)
1648:
1639:
1633:
1619:
1582:
1577:
1576:
1539:
1538:
1462:
1448:
1406:
1392:
1375:
1361:
1344:
1341:
1339:Further reading
1336:
1335:
1304:
1303:
1299:
1261:
1260:
1233:
1187:
1186:
1182:
1155:JAMA Pediatrics
1152:
1151:
1147:
1117:
1116:
1112:
1105:
1084:
1083:
1079:
1064:
1045:
1039:
1038:
1034:
1014:
1013:
1009:
996:
995:
991:
978:
974:
969:
896:
863:
858:
805:lactic acidosis
741:phenylketonuria
724:
558:
553:
424:enlarged spleen
351:delayed puberty
332:
327:
145:phenylketonuria
131:G6PD deficiency
111:metabolism, or
97:
91:
53:) into others (
28:
23:
22:
15:
12:
11:
5:
4385:
4383:
4375:
4374:
4369:
4364:
4354:
4353:
4347:
4346:
4344:
4343:
4338:
4332:
4330:
4326:
4325:
4323:
4322:
4316:
4314:
4310:
4309:
4307:
4306:
4299:
4291:
4289:
4285:
4284:
4282:
4281:
4276:
4270:
4268:
4257:
4256:
4243:
4241:
4240:
4233:
4226:
4218:
4209:
4208:
4205:
4204:
4202:
4201:
4196:
4190:
4188:
4184:
4183:
4180:
4179:
4177:
4176:
4171:
4165:
4163:
4156:
4155:
4153:
4152:
4151:
4150:
4142:
4137:
4132:
4131:
4130:
4125:
4116:
4110:
4108:
4098:
4092:
4091:
4089:
4088:
4083:
4078:
4069:
4068:
4063:
4047:
4046:
4034:
4032:
4024:Corticosteroid
4017:
4011:
4010:
4008:
4007:
3995:
3994:
3989:
3984:
3979:
3977:CHILD syndrome
3974:
3962:
3960:
3953:
3952:
3950:
3949:
3944:
3938:
3937:
3931:
3929:
3921:
3920:
3915:
3913:
3912:
3905:
3898:
3890:
3881:
3880:
3877:
3876:
3874:
3873:
3867:
3865:
3861:
3860:
3858:
3857:
3852:
3846:
3844:
3837:
3831:
3830:
3827:
3826:
3824:
3823:
3818:
3813:
3808:
3803:
3797:
3795:
3791:
3790:
3788:
3787:
3782:
3772:
3770:
3764:
3763:
3761:
3760:
3755:
3749:
3747:
3740:
3734:
3733:
3724:
3722:
3721:
3714:
3707:
3699:
3690:
3689:
3686:
3685:
3683:
3682:
3680:Rotor syndrome
3677:
3671:
3669:
3661:
3660:
3658:
3657:
3652:
3647:
3641:
3639:
3628:
3616:
3615:
3612:
3611:
3609:
3608:
3603:
3598:
3593:
3587:
3585:
3577:
3576:
3574:
3573:
3564:
3558:
3556:
3548:
3547:
3545:
3544:
3539:
3537:ALAD porphyria
3533:
3531:
3520:
3512:erythropoietic
3499:
3498:
3492:
3490:
3489:
3482:
3475:
3467:
3458:
3457:
3455:
3454:
3449:
3444:
3439:
3433:
3431:
3427:
3426:
3424:
3423:
3417:
3415:
3409:
3408:
3405:
3404:
3402:
3401:
3396:
3391:
3385:
3383:
3377:
3376:
3374:
3373:
3368:
3362:
3360:
3351:
3345:
3344:
3342:
3341:
3336:
3335:
3334:
3329:
3324:
3319:
3314:
3309:
3294:
3292:
3290:Hyperlipidemia
3286:
3285:
3272:
3270:
3269:
3262:
3255:
3247:
3238:
3237:
3234:
3233:
3231:
3230:
3223:
3221:
3215:
3214:
3212:
3211:
3204:
3202:
3194:
3193:
3190:
3189:
3187:
3186:
3180:
3173:
3171:
3167:
3166:
3164:
3163:
3156:
3154:
3148:
3147:
3145:
3144:
3137:
3135:
3129:
3128:
3126:
3125:
3115:
3114:
3113:
3112:
3106:
3100:
3094:
3080:
3078:
3071:
3063:
3062:
3060:
3059:
3053:
3052:
3051:
3046:
3041:
3036:
3023:
3021:
3010:
3006:
3005:
3003:
3002:
2995:
2993:
2989:
2988:
2975:
2973:
2972:
2965:
2958:
2950:
2941:
2940:
2938:
2937:
2932:
2927:
2922:
2917:
2911:
2909:
2905:
2904:
2902:
2901:
2896:
2886:
2885:
2880:
2875:
2870:
2860:
2858:
2847:
2846:
2843:
2842:
2839:
2838:
2836:
2827:
2822:
2817:
2812:
2807:
2802:
2800:
2799:
2798:
2785:Hyperammonemia
2774:
2767:
2766:
2763:
2762:
2759:
2758:
2756:
2755:
2749:
2743:
2741:
2739:Norepinephrine
2731:
2730:
2728:
2727:
2722:
2712:
2697:
2695:
2685:
2684:
2682:
2681:
2672:
2667:
2662:
2652:
2650:
2644:
2643:
2641:
2640:
2635:
2629:
2627:
2618:
2605:
2598:
2597:
2594:
2593:
2591:
2590:
2585:
2580:
2574:
2572:
2561:
2560:
2558:
2557:
2552:
2550:Homocystinuria
2547:
2541:
2539:
2533:
2532:
2530:
2529:
2524:
2519:
2513:
2511:
2505:
2504:
2502:
2501:
2496:
2491:
2489:Hypervalinemia
2485:
2483:
2474:
2462:
2461:
2458:
2457:
2455:
2454:
2448:
2446:
2436:
2435:
2433:
2432:
2427:
2421:
2419:
2413:
2412:
2410:
2409:
2404:
2399:
2393:
2391:
2382:
2370:
2369:
2366:
2365:
2363:
2362:
2357:
2343:
2342:
2337:
2332:
2326:
2324:
2315:
2301:
2295:
2294:
2291:
2290:
2288:
2287:
2281:
2279:
2273:
2272:
2270:
2269:
2264:
2259:
2254:
2249:
2243:
2241:
2235:
2234:
2232:
2231:
2226:
2221:
2219:Hyperlysinemia
2216:
2211:
2205:
2203:
2193:
2183:
2182:
2173:
2171:
2170:
2163:
2156:
2148:
2139:
2138:
2136:
2135:
2124:
2119:
2118:
2117:
2106:
2104:
2100:
2099:
2097:
2096:
2091:
2085:
2080:
2074:
2072:
2066:
2065:
2062:
2061:
2059:
2058:
2052:
2047:
2041:
2039:
2033:
2032:
2030:
2029:
2023:
2020:
2017:
2012:
2007:
2002:
1996:
1986:
1984:
1975:
1965:
1964:
1961:
1960:
1957:
1956:
1954:
1953:
1947:
1940:
1938:
1925:
1924:
1922:
1921:
1915:
1909:
1903:
1897:
1890:
1888:
1879:
1877:Glycogenolysis
1873:
1872:
1870:
1869:
1863:
1861:Lafora disease
1858:
1852:
1846:
1839:
1837:
1828:
1818:
1817:
1814:
1813:
1810:
1809:
1807:
1806:
1797:
1791:
1789:
1776:
1775:
1773:
1772:
1767:
1761:
1759:
1747:
1744:Monosaccharide
1737:
1727:
1726:
1723:
1722:
1720:
1719:
1713:
1707:
1702:
1692:
1686:
1684:
1681:Monosaccharide
1677:
1676:
1674:
1673:
1668:
1662:
1660:
1650:
1641:
1640:
1630:monosaccharide
1620:
1618:
1617:
1610:
1603:
1595:
1589:
1588:
1579:
1578:
1575:
1574:
1572:article/804757
1560:
1548:
1547:
1545:
1541:
1540:
1537:
1536:
1525:
1506:
1487:
1463:
1458:
1457:
1455:
1454:Classification
1447:
1446:External links
1444:
1443:
1442:
1416:(3): 445–451.
1404:
1390:
1373:
1359:
1340:
1337:
1334:
1333:
1297:
1231:
1180:
1161:(8): 778–782.
1145:
1126:(2): 291–300.
1110:
1103:
1077:
1062:
1032:
1007:
989:
971:
970:
968:
965:
962:
961:
958:
955:
949:
948:
945:
942:
935:
934:
931:
928:
922:
921:
918:
915:
909:
908:
905:
902:
884:
883:
880:
865:In a study in
862:
859:
857:
856:
851:
848:
839:
834:
821:
816:
810:
809:
808:
792:
791:
790:
769:
768:
767:
756:oral ingestion
749:
748:
747:
733:
723:
720:
707:
706:
700:
697:
671:
670:
659:
649:
639:
624:
610:
604:
591:
557:
554:
552:
551:
537:Hypothyroidism
534:
527:
517:
507:
501:
488:
478:enlarged heart
467:
457:kidney failure
450:
448:abdominal pain
436:
432:Many forms of
430:
409:
406:
391:
378:
372:encephalopathy
357:
344:
341:Growth failure
337:
331:
328:
326:
325:
324:
323:
318:
308:
307:
306:
294:
293:
292:
280:
279:
278:
273:
261:
260:
259:
253:
241:
240:
239:
227:
226:
225:
208:
207:
206:
201:
195:
179:
178:
177:
172:
164:
163:
162:
157:
152:
147:
135:
134:
133:
128:
117:
90:
87:
45:that code for
26:
24:
14:
13:
10:
9:
6:
4:
3:
2:
4384:
4373:
4370:
4368:
4365:
4363:
4360:
4359:
4357:
4342:
4339:
4337:
4334:
4333:
4331:
4327:
4321:
4318:
4317:
4315:
4313:Other vitamin
4311:
4304:
4300:
4297:
4293:
4292:
4290:
4286:
4280:
4277:
4275:
4272:
4271:
4269:
4267:
4263:
4258:
4254:
4250:
4246:
4239:
4234:
4232:
4227:
4225:
4220:
4219:
4216:
4200:
4197:
4195:
4192:
4191:
4189:
4185:
4175:
4172:
4170:
4167:
4166:
4164:
4162:
4157:
4148:
4147:
4146:
4143:
4141:
4138:
4136:
4133:
4129:
4122:
4121:
4120:
4117:
4115:
4112:
4111:
4109:
4107:
4102:
4099:
4097:
4093:
4087:
4084:
4082:
4079:
4077:
4074:
4071:
4070:
4067:
4064:
4062:
4059:
4057:
4053:
4049:
4048:
4045:
4042:
4040:
4036:
4035:
4033:
4030:
4025:
4021:
4018:
4016:
4012:
4006:
4003:
4001:
3997:
3996:
3993:
3990:
3988:
3985:
3983:
3980:
3978:
3975:
3973:
3970:
3968:
3964:
3963:
3961:
3959:
3954:
3948:
3945:
3943:
3940:
3939:
3936:
3933:
3932:
3930:
3928:
3922:
3918:
3911:
3906:
3904:
3899:
3897:
3892:
3891:
3888:
3872:
3869:
3868:
3866:
3862:
3856:
3853:
3851:
3848:
3847:
3845:
3841:
3838:
3836:
3832:
3822:
3819:
3817:
3814:
3812:
3809:
3807:
3804:
3802:
3799:
3798:
3796:
3792:
3786:
3783:
3781:
3780:Hyperuricemia
3777:
3774:
3773:
3771:
3769:
3765:
3759:
3756:
3754:
3751:
3750:
3748:
3744:
3741:
3739:
3735:
3731:
3727:
3720:
3715:
3713:
3708:
3706:
3701:
3700:
3697:
3681:
3678:
3676:
3673:
3672:
3670:
3667:
3662:
3656:
3653:
3651:
3648:
3646:
3643:
3642:
3640:
3637:
3636:unconjugated:
3632:
3629:
3626:
3621:
3617:
3607:
3604:
3602:
3599:
3597:
3594:
3592:
3589:
3588:
3586:
3583:
3578:
3572:
3568:
3565:
3563:
3560:
3559:
3557:
3554:
3549:
3543:
3540:
3538:
3535:
3534:
3532:
3529:
3524:
3521:
3518:
3513:
3509:
3504:
3500:
3495:
3488:
3483:
3481:
3476:
3474:
3469:
3468:
3465:
3453:
3450:
3448:
3445:
3443:
3440:
3438:
3435:
3434:
3432:
3428:
3422:
3419:
3418:
3416:
3414:
3413:Lipodystrophy
3410:
3400:
3397:
3395:
3392:
3390:
3387:
3386:
3384:
3382:
3378:
3372:
3369:
3367:
3364:
3363:
3361:
3359:
3355:
3352:
3350:
3346:
3340:
3337:
3333:
3330:
3328:
3325:
3323:
3320:
3318:
3315:
3313:
3310:
3308:
3305:
3304:
3303:
3299:
3296:
3295:
3293:
3291:
3287:
3283:
3279:
3275:
3268:
3263:
3261:
3256:
3254:
3249:
3248:
3245:
3228:
3225:
3224:
3222:
3220:
3216:
3209:
3206:
3205:
3203:
3201:
3195:
3184:
3181:
3178:
3175:
3174:
3172:
3168:
3161:
3158:
3157:
3155:
3153:
3149:
3142:
3139:
3138:
3136:
3134:
3130:
3124:
3120:
3117:
3116:
3110:
3107:
3104:
3101:
3098:
3095:
3092:
3089:
3088:
3087:
3086:
3082:
3081:
3079:
3075:
3072:
3070:
3064:
3057:
3054:
3050:
3047:
3045:
3042:
3040:
3037:
3035:
3032:
3031:
3030:
3029:
3025:
3024:
3022:
3020:
3014:
3011:
3007:
3000:
2997:
2996:
2994:
2990:
2986:
2982:
2978:
2971:
2966:
2964:
2959:
2957:
2952:
2951:
2948:
2936:
2933:
2931:
2928:
2926:
2923:
2921:
2918:
2916:
2913:
2912:
2910:
2906:
2900:
2897:
2895:
2891:
2888:
2887:
2884:
2881:
2879:
2876:
2874:
2871:
2869:
2865:
2862:
2861:
2859:
2857:
2852:
2848:
2835:
2831:
2828:
2826:
2823:
2821:
2820:Citrullinemia
2818:
2816:
2813:
2811:
2808:
2806:
2803:
2801:
2796:
2793:
2792:
2791:
2786:
2782:
2778:
2775:
2773:
2768:
2754:
2750:
2748:
2745:
2744:
2742:
2740:
2736:
2732:
2726:
2723:
2720:
2716:
2713:
2710:
2706:
2702:
2699:
2698:
2696:
2694:
2690:
2686:
2680:
2679:Hawkinsinuria
2676:
2673:
2671:
2668:
2666:
2663:
2661:
2657:
2654:
2653:
2651:
2649:
2645:
2639:
2636:
2634:
2631:
2630:
2628:
2626:
2622:
2619:
2617:
2613:
2612:Phenylalanine
2609:
2606:
2604:
2599:
2589:
2586:
2584:
2581:
2579:
2576:
2575:
2573:
2571:
2567:
2562:
2556:
2553:
2551:
2548:
2546:
2543:
2542:
2540:
2538:
2534:
2528:
2525:
2523:
2520:
2518:
2515:
2514:
2512:
2510:
2506:
2500:
2497:
2495:
2492:
2490:
2487:
2486:
2484:
2482:
2478:
2475:
2473:
2468:
2467:propionyl-CoA
2463:
2453:
2450:
2449:
2447:
2445:
2441:
2437:
2431:
2428:
2426:
2423:
2422:
2420:
2418:
2414:
2408:
2405:
2403:
2400:
2398:
2395:
2394:
2392:
2390:
2386:
2383:
2381:
2376:
2371:
2361:
2358:
2356:
2352:
2348:
2345:
2344:
2341:
2338:
2336:
2333:
2331:
2328:
2327:
2325:
2323:
2319:
2316:
2314:
2310:
2305:
2302:
2300:
2296:
2286:
2283:
2282:
2280:
2278:
2274:
2268:
2265:
2263:
2260:
2258:
2255:
2253:
2250:
2248:
2245:
2244:
2242:
2240:
2236:
2230:
2227:
2225:
2222:
2220:
2217:
2215:
2212:
2210:
2207:
2206:
2204:
2201:
2197:
2194:
2192:
2188:
2184:
2180:
2176:
2169:
2164:
2162:
2157:
2155:
2150:
2149:
2146:
2133:
2129:
2125:
2123:
2120:
2116:
2113:
2112:
2111:
2110:Hyperoxaluria
2108:
2107:
2105:
2101:
2095:
2092:
2089:
2086:
2084:
2081:
2079:
2076:
2075:
2073:
2071:
2067:
2056:
2053:
2051:
2048:
2046:
2043:
2042:
2040:
2038:
2034:
2027:
2024:
2021:
2018:
2016:
2013:
2011:
2008:
2006:
2003:
2000:
1997:
1995:
1991:
1988:
1987:
1985:
1983:
1979:
1976:
1974:
1970:
1966:
1951:
1950:Danon disease
1948:
1945:
1942:
1941:
1939:
1935:
1931:
1926:
1919:
1916:
1913:
1910:
1907:
1904:
1901:
1898:
1895:
1892:
1891:
1889:
1883:
1880:
1878:
1874:
1867:
1864:
1862:
1859:
1856:
1853:
1850:
1847:
1844:
1841:
1840:
1838:
1836:
1832:
1829:
1827:
1823:
1819:
1805:
1801:
1798:
1796:
1793:
1792:
1790:
1786:
1782:
1777:
1771:
1768:
1766:
1763:
1762:
1760:
1756:
1751:
1748:
1745:
1741:
1738:
1736:
1732:
1728:
1717:
1714:
1711:
1708:
1706:
1703:
1700:
1696:
1693:
1691:
1688:
1687:
1685:
1682:
1678:
1672:
1669:
1667:
1664:
1663:
1661:
1658:
1654:
1651:
1646:
1642:
1637:
1631:
1627:
1623:
1616:
1611:
1609:
1604:
1602:
1597:
1596:
1593:
1587:
1584:
1583:
1573:
1570:
1566:
1565:
1561:
1559:
1555:
1554:
1550:
1549:
1546:
1542:
1535:
1531:
1530:
1526:
1524:
1520:
1516:
1515:
1511:
1507:
1505:
1501:
1497:
1496:
1492:
1488:
1486:
1482:
1478:
1474:
1473:
1469:
1465:
1464:
1461:
1456:
1452:
1445:
1439:
1435:
1431:
1427:
1423:
1419:
1415:
1411:
1405:
1401:
1397:
1393:
1387:
1383:
1379:
1374:
1370:
1366:
1362:
1356:
1352:
1348:
1343:
1342:
1338:
1329:
1325:
1321:
1317:
1313:
1309:
1301:
1298:
1293:
1289:
1285:
1281:
1277:
1273:
1269:
1265:
1258:
1256:
1254:
1252:
1250:
1248:
1246:
1244:
1242:
1240:
1238:
1236:
1232:
1227:
1223:
1219:
1215:
1210:
1205:
1201:
1197:
1196:
1191:
1184:
1181:
1176:
1172:
1168:
1164:
1160:
1156:
1149:
1146:
1141:
1137:
1133:
1129:
1125:
1121:
1114:
1111:
1106:
1100:
1096:
1092:
1088:
1081:
1078:
1073:
1069:
1065:
1059:
1055:
1051:
1043:
1036:
1033:
1028:
1024:
1020:
1019:
1011:
1008:
1003:
999:
993:
990:
987:
983:
982:
976:
973:
966:
959:
956:
954:
951:
950:
946:
943:
941:
937:
936:
933:~1 in 30,000
932:
929:
927:
924:
923:
919:
916:
914:
911:
910:
906:
903:
900:
894:
890:
886:
885:
878:
877:
874:
872:
868:
860:
855:
852:
849:
847:
843:
840:
838:
835:
833:
832:Pompe disease
829:
825:
822:
820:
817:
815:
811:
806:
802:
798:
797:
796:
793:
789:
785:
781:
777:
773:
772:
770:
765:
761:
757:
753:
752:
750:
746:
742:
738:
737:
735:
734:
732:
729:
721:
719:
717:
713:
705:
701:
698:
696:
692:
688:
684:
680:
676:
675:
674:
668:
664:
660:
658:
654:
653:acylcarnitine
650:
648:
644:
640:
637:
633:
629:
625:
623:
619:
615:
611:
608:
605:
602:
598:
595:
592:
589:
586:
585:
584:
577:
573:
571:
567:
563:
555:
550:
546:
542:
538:
535:
532:
528:
526:
522:
518:
516:
512:
508:
506:
502:
500:
499:liver failure
496:
492:
489:
487:
483:
479:
475:
474:heart failure
471:
468:
466:
462:
458:
454:
451:
449:
445:
441:
437:
435:
431:
429:
425:
421:
417:
413:
410:
407:
404:
400:
396:
392:
390:
386:
382:
379:
377:
373:
369:
365:
361:
358:
356:
352:
348:
345:
342:
339:
338:
336:
329:
322:
319:
317:
314:
313:
312:
309:
305:
302:
301:
299:
296:Disorders of
295:
291:
288:
287:
285:
284:mitochondrial
282:Disorders of
281:
277:
274:
272:
269:
268:
266:
263:Disorders of
262:
257:
254:
252:
249:
248:
246:
243:Disorders of
242:
238:
235:
234:
232:
229:Disorders of
228:
223:
220:
219:
217:
216:mitochondrial
213:
210:Disorders of
209:
205:
202:
199:
196:
194:
191:
190:
188:
184:
181:Disorders of
180:
176:
173:
171:
168:
167:
165:
161:
158:
156:
153:
151:
148:
146:
143:
142:
140:
137:Disorders of
136:
132:
129:
127:
124:
123:
122:
119:
118:
116:
114:
110:
106:
102:
96:
88:
86:
84:
80:
76:
72:
68:
64:
60:
56:
52:
48:
44:
40:
36:
32:
19:
4124:Cytochrome b
4072:
4050:
4037:
3998:
3965:
3726:Inborn error
3665:
3635:
3581:
3553:cytoplasmic:
3552:
3527:
3282:dyslipidemia
3274:Inborn error
3097:Medium-chain
3083:
3026:
2977:Inborn error
2772:oxaloacetate
2656:Alkaptonuria
2472:succinyl-CoA
2402:Histidinemia
2397:Carnosinemia
2340:Sarcosinemia
2175:Inborn error
2130:deficiency,
1999:GSD type VII
1894:GSD type III
1835:Glycogenesis
1785:galactosemia
1657:Disaccharide
1622:Inborn error
1562:
1551:
1527:
1508:
1489:
1466:
1413:
1409:
1381:
1377:
1350:
1346:
1314:(1): 16–21.
1311:
1307:
1300:
1267:
1263:
1199:
1193:
1183:
1158:
1154:
1148:
1123:
1119:
1113:
1086:
1080:
1053:
1049:
1035:
1017:
1010:
1001:
992:
979:
975:
960:1 in 43,000
947:1 in 33,000
920:1 in 12,500
899:galactosemia
864:
861:Epidemiology
837:Gene therapy
771:Medications
764:hypoglycemic
725:
708:
672:
655:analysis by
645:analysis by
643:organic acid
607:Guthrie test
582:
559:
545:hypogonadism
529:Joint pain,
482:hypertension
399:pigmentation
389:pain agnosia
333:
193:alkaptonuria
185:metabolism (
183:organic acid
109:organic acid
107:metabolism,
103:metabolism,
101:carbohydrate
98:
82:
70:
62:
58:
30:
29:
4096:Sex steroid
4039:aldosterone
4027:(including
4000:desmosterol
3958:cholesterol
3811:Xanthinuria
3666:conjugated:
3437:Lipomatosis
3133:Unsaturated
3091:Short-chain
3009:Degradation
2805:Argininemia
2648:Tyrosinemia
1912:GSD type IX
1900:GSD type VI
1866:GSD type XV
1849:GSD type IV
1647:, transport
1553:MedlinePlus
1410:Amino Acids
1202:: 838–856.
1002:Mayo Clinic
907:1 in 4,200
893:Tyrosinemia
842:Bone marrow
780:metabolites
704:DNA testing
695:bone marrow
614:amino acids
461:dehydration
397:, abnormal
298:peroxisomal
267:metabolism
247:metabolism
233:metabolism
218:metabolism
150:tyrosinemia
141:metabolism
4372:Metabolism
4356:Categories
4128:deficiency
3925:Mevalonate
3864:Catabolism
3794:Catabolism
3200:acetyl-CoA
2899:Cystinosis
2868:Cystinuria
2781:Urea cycle
2660:Ochronosis
2537:Methionine
2509:Isoleucine
2277:Tryptophan
2191:acetyl-CoA
2122:Pentosuria
2055:GSD type I
1982:Glycolysis
1906:GSD type V
1843:GSD type 0
1746:catabolism
1659:catabolism
1634:Including
1400:1141547603
1270:(1): e10.
1264:Pediatrics
1027:1159473729
967:References
882:Incidence
776:Nitisinone
743:and other
667:pyrimidine
636:amino acid
601:amino acid
556:Diagnostic
521:depression
438:Recurrent
139:amino acid
105:amino acid
93:See also:
51:substrates
39:congenital
37:involving
4253:cofactors
4161:estrogens
4106:androgens
4056:cortisone
3843:Anabolism
3746:Anabolism
3625:bilirubin
3517:porphyrin
3503:Porphyria
3152:Odd chain
3069:oxidation
3028:Carnitine
3019:transport
2992:Synthesis
2856:IE of RTT
2851:Transport
2795:aspartate
2751:reverse:
2444:glutamine
2440:Glutamate
2389:Histidine
2375:glutamate
1930:Lysosomal
1781:Galactose
1683:transport
1569:emerg/768
1564:eMedicine
1438:211053578
1369:879866185
1226:243983688
1072:884592549
722:Treatment
702:Specific
628:Ninhydrin
603:patterns)
594:Ninhydrin
525:psychosis
385:blindness
300:function
286:function
231:porphyrin
4249:vitamins
4052:cortisol
4015:Steroids
3219:Aldehyde
3121:(MTPD):
2790:arginine
2735:Tyrosine
2701:Albinism
2689:Tyrosine
2616:tyrosine
2603:fumarate
2564:General
2351:Creatine
2309:pyruvate
1826:glycogen
1755:Fructose
1430:32034492
1328:28302345
1292:30266513
1284:10617747
1218:34774900
1175:26075348
1140:11261724
819:Dialysis
801:thiamine
795:Vitamins
495:jaundice
444:diarrhea
440:vomiting
381:Deafness
368:dementia
364:seizures
200:(CMAMMA)
55:products
4288:Other B
3927:pathway
3508:hepatic
3179:(HADHD)
3143:(DECRD)
3077:General
2693:Melanin
2417:Proline
2347:Glycine
2322:Glycine
2313:citrate
2239:Leucine
1969:Glucose
1822:Glucose
1735:glucose
1645:Sucrose
1534:D008661
677:Tissue
651:Plasma
265:steroid
224:(MCADD)
47:enzymes
4262:Biotin
3185:(MADD)
3111:VLCADD
2481:Valine
2452:SSADHD
2214:type 2
2200:Lysine
2132:PRKAG2
1990:MODY 2
1857:(APBD)
1731:Hexose
1558:002438
1436:
1428:
1398:
1388:
1367:
1357:
1326:
1290:
1282:
1224:
1216:
1173:
1138:
1101:
1070:
1060:
1025:
799:E.g.,
774:E.g.,
754:E.g.,
687:muscle
679:biopsy
663:purine
661:Urine
641:Urine
618:plasma
531:muscle
434:cancer
376:stroke
258:(MADD)
4301:B12 (
4187:Other
4073:both:
4002:path:
3969:path:
3430:Other
3229:(SLS)
3210:(MCD)
3170:Other
3105:LCHAD
3099:MCADD
3093:SCADD
3058:(ALD)
3049:CACTD
3001:(BTD)
2908:Other
2103:Other
2088:SDDHD
1638:(GSD)
1434:S2CID
1380:[
1349:[
1288:S2CID
1222:S2CID
1052:[
1046:(PDF)
826:E.g.
691:brain
683:liver
622:urine
465:edema
393:Skin
43:genes
4294:B5 (
3816:Gout
3728:of
3510:and
3494:Heme
3276:of
3067:Beta
3044:CDSP
3039:CPT2
3034:CPT1
3017:Acyl
1994:HHF3
1529:MeSH
1514:9-CM
1485:5C5A
1481:5C59
1477:5C50
1426:PMID
1396:OCLC
1386:ISBN
1365:OCLC
1355:ISBN
1324:PMID
1280:PMID
1214:PMID
1171:PMID
1136:PMID
1099:ISBN
1068:OCLC
1058:ISBN
1023:OCLC
830:for
712:ADHD
665:and
626:IEX-
620:and
395:rash
214:and
4266:MCD
4260:B7
4247:of
4159:To
4104:To
4029:CAH
3956:To
2979:of
2177:of
1973:CAC
1934:LSD
1624:of
1523:279
1519:270
1510:ICD
1504:E90
1500:E70
1491:ICD
1468:ICD
1418:doi
1316:doi
1312:121
1272:doi
1268:105
1204:doi
1200:132
1163:doi
1159:169
1128:doi
1124:910
1091:doi
889:PKU
844:or
616:in
513:),
61:or
4358::
3280::
3197:To
2983::
2892::
2866::
2770:G→
2703::
2601:G→
2570:OA
2566:BC
2465:G→
2373:G→
2353::
2307:G→
1971:⇄
1936:):
1824:⇄
1783:/
1733:→
1628::
1567::
1556::
1532::
1517::
1498::
1495:10
1483:,
1475::
1472:11
1432:.
1424:.
1414:52
1412:.
1394:.
1363:.
1322:.
1310:.
1286:.
1278:.
1266:.
1234:^
1220:.
1212:.
1198:.
1192:.
1169:.
1157:.
1134:.
1122:.
1097:.
1089:.
1066:.
1048:.
1021:.
1000:.
984::
891:,
718:.
693:,
689:,
685:,
681::
547:,
543:,
539:,
523:,
497:,
493:,
484:,
480:,
476:,
472:,
463:,
459:,
455:,
446:,
442:,
426:,
422:,
418:,
414:,
387:,
383:,
374:,
370:,
366:,
362:,
353:,
349:,
189:)
4305:)
4298:)
4264:/
4237:e
4230:t
4223:v
4126:5
4058::
4054:/
4041::
4031:)
3909:e
3902:t
3895:v
3778:/
3718:e
3711:t
3704:v
3627:)
3623:(
3569:/
3519:)
3515:(
3505:,
3486:e
3479:t
3472:v
3300:/
3266:e
3259:t
3252:v
2969:e
2962:t
2955:v
2853:/
2832:/
2797:)
2788:(
2783:/
2737:→
2721:)
2717:(
2711:)
2709:1
2707:(
2691:→
2677:/
2658:/
2614:/
2568:/
2469:→
2442:/
2377:→
2349:→
2311:→
2299:G
2189:→
2187:K
2167:e
2160:t
2153:v
2134:)
1992:/
1932:(
1802:/
1787::
1757::
1701:)
1697:(
1614:e
1607:t
1600:v
1521:-
1512:-
1502:-
1493:-
1479:-
1470:-
1460:D
1440:.
1420::
1402:.
1371:.
1330:.
1318::
1294:.
1274::
1228:.
1206::
1177:.
1165::
1142:.
1130::
1107:.
1093::
1074:.
1029:.
1004:.
807:.
766:.
20:)
Text is available under the Creative Commons Attribution-ShareAlike License. Additional terms may apply.