Details of Disease

General Information of Disease (ID: DISO5FAY)

Disease Name	Inborn error of metabolism
Synonyms	rare metabolic disease; rare inherited metabolic disorder; rare inborn errors of metabolism; inborn metabolism disorder; metabolic hereditary disorder; inborn error of metabolism; inborn errors of metabolism; congenital metabolic disorder; inborn disorders of metabolism; congenital metabolism disorder; hereditary metabolic disease; inherited metabolic disorder; inherited disorder of metabolism; inborn metabolic disorder; inherited disorders of metabolism
Disease Class	5C50-5C59: Inborn metabolism deficiency
Definition	An inherited disorder resulting from an enzyme defect in biochemical and metabolic pathways affecting proteins, fats, carbohydrates metabolism or organelle function.\|Note that the ordo class is specifically for rare diseases, but we broaden to be inclusive of HH1
Disease Hierarchy	DISYKSRF: Genetic disease DIS71G5H: Metabolic disorder DISO5FAY: Inborn error of metabolism
ICD Code	ICD-11 ICD-11: 5C50-5C59
Disease Identifiers	MONDO ID MONDO_0019052 MESH ID D008661 UMLS CUI C0025521 MedGen ID 6323 Orphanet ID 68367 SNOMED CT ID 86095007

Drug-Interaction Atlas (DIA) of This Disease

Drug-Interaction Atlas (DIA)

This Disease is Treated as An Indication in 2 Approved Drug(s)

Drug Name	Drug ID	Highest Status	Drug Type	REF
Betaine	DMGRZW2	Approved	Small molecular drug	[1]
TRIENTINE	DMD2WPG	Approved	Small molecular drug	[2]
------------------------------------------------------------------------------------

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 35 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
LEPR	TT0HD6V	Limited	Biomarker	[3]
GLA	TTIS03D	moderate	Altered Expression	[4]
OTC	TT5KIO9	moderate	Biomarker	[5]
ACAT1	TTK3C21	Strong	Biomarker	[6]
AGXT	TTF5NVW	Strong	Biomarker	[7]
ALPL	TTMR5UV	Strong	Biomarker	[8]
ASPA	TT6TLZP	Strong	Biomarker	[9]
CA2	TTANPDJ	Strong	Biomarker	[10]
CBS	TTVZJ7G	Strong	Biomarker	[11]
CES1	TTMF541	Strong	Biomarker	[12]
DHFR	TTYZVDJ	Strong	Biomarker	[13]
DIO1	TTU3X26	Strong	Biomarker	[14]
GALE	TTGRHIB	Strong	Genetic Variation	[15]
GPD1	TTKTEAH	Strong	Biomarker	[16]
HAO1	TTS58YO	Strong	Biomarker	[17]
HEXA	TTJI5JW	Strong	Biomarker	[18]
HEXB	TTKIBKM	Strong	Genetic Variation	[19]
HMBS	TTT0HW3	Strong	Altered Expression	[20]
LCAT	TTGZ91P	Strong	Biomarker	[21]
MLYCD	TT9Z4YD	Strong	Genetic Variation	[22]
MVK	TT5DFHW	Strong	Genetic Variation	[23]
OAT	TTTSCQ2	Strong	Biomarker	[24]
PAH	TTGSVH2	Strong	Biomarker	[25]
PLA2G7	TTDNFMT	Strong	Biomarker	[26]
SGPL1	TT618Q2	Strong	Genetic Variation	[27]
SLC10A1	TTWZRY5	Strong	Biomarker	[28]
SLC2A1	TT79TKF	Strong	Biomarker	[29]
SLC37A4	TT1KPBZ	Strong	Genetic Variation	[30]
SLC46A1	TTY8Z2E	Strong	Genetic Variation	[31]
SLC5A7	TTRV7W3	Strong	Genetic Variation	[32]
STS	TTHM0R1	Strong	Genetic Variation	[33]
TKT	TT04R7I	Strong	Biomarker	[34]
IDUA	TT0IUKX	Definitive	Biomarker	[35]
PLA2G4A	TTT1JVS	Definitive	Biomarker	[36]
TTK	TTP7EGM	Definitive	Biomarker	[35]
------------------------------------------------------------------------------------


⏷ Show the Full List of 35 DTT(s)

This Disease Is Related to 3 DTP Molecule(s)

Gene Name	DTP ID	Evidence Level	Mode of Inheritance	REF
ABCD4	DTI8AFW	Strong	Biomarker	[37]
SLC25A13	DTDSYAQ	Strong	Biomarker	[38]
SLC28A1	DT0EQPW	Strong	Biomarker	[39]
------------------------------------------------------------------------------------

This Disease Is Related to 8 DME Molecule(s)

Gene Name	DME ID	Evidence Level	Mode of Inheritance	REF
ASNS	DEXISVQ	Limited	Genetic Variation	[40]
CYP27A1	DEBS639	moderate	Genetic Variation	[41]
CHKB	DEHWR6V	Strong	Genetic Variation	[42]
GALK1	DE3OP9S	Strong	Genetic Variation	[15]
HPRT1	DEVXTP5	Strong	Biomarker	[43]
HSD17B10	DEGSPC9	Strong	Biomarker	[44]
NAGS	DEGI1A9	Strong	Biomarker	[45]
PMM2	DEBRX3L	Strong	Biomarker	[46]
------------------------------------------------------------------------------------


⏷ Show the Full List of 8 DME(s)

This Disease Is Related to 40 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
MMUT	OTBBBV70	Limited	Biomarker	[47]
ACADM	OTA4P0FC	moderate	Genetic Variation	[48]
ACY1	OT9WU7X3	moderate	Biomarker	[49]
GALT	OTCATU66	moderate	Altered Expression	[50]
GCDH	OTVQMZZN	moderate	Biomarker	[51]
HGD	OTTKLQOO	moderate	Genetic Variation	[52]
ITPA	OTQ47WVR	moderate	Biomarker	[53]
ACSF3	OT3WZW8S	Strong	Genetic Variation	[54]
ADAMTSL2	OTAXNV2U	Strong	Biomarker	[55]
ADSL	OTSNJALL	Strong	Biomarker	[56]
AGXT2	OTO6QUTM	Strong	Biomarker	[57]
ALG11	OTTXM241	Strong	Biomarker	[58]
ASS1	OT4ZMG0Q	Strong	Biomarker	[59]
COQ9	OTM2T1FI	Strong	Genetic Variation	[60]
DMGDH	OTPJEWQ8	Strong	Biomarker	[61]
ECHS1	OTS0593S	Strong	Genetic Variation	[62]
FAH	OTGZA1YR	Strong	Genetic Variation	[63]
FLAD1	OTY8R02L	Strong	Altered Expression	[64]
GK	OTK2YRA0	Strong	Genetic Variation	[65]
GNMT	OT0O2OQO	Strong	Genetic Variation	[32]
HADHA	OTO557N2	Strong	Biomarker	[66]
HAO2	OTDWSQ0L	Strong	Biomarker	[17]
HIBCH	OTU2VHWR	Strong	Genetic Variation	[67]
KIFBP	OT1XADKG	Strong	Genetic Variation	[68]
LDHB	OT9B1CT3	Strong	Biomarker	[69]
LIPT1	OT2KCI00	Strong	Biomarker	[70]
LYPD4	OTYNO8BS	Strong	Biomarker	[71]
MMAA	OTMAVZVO	Strong	Biomarker	[72]
PANK2	OTFBW889	Strong	Genetic Variation	[73]
PDHA1	OTGEU8IK	Strong	Genetic Variation	[74]
PSD	OTUZIXUZ	Strong	Biomarker	[75]
SELENBP1	OT3NZNTR	Strong	Biomarker	[76]
SERPINA7	OTUYVTSU	Strong	Biomarker	[77]
SUMF1	OTALXO2A	Strong	Altered Expression	[78]
SUOX	OTEJQ9FC	Strong	Genetic Variation	[79]
TCN2	OT41D0L3	Strong	Genetic Variation	[80]
TPI1	OT14KP4B	Strong	Biomarker	[81]
MPEG1	OT7DAO0F	Definitive	Biomarker	[35]
MYO5B	OTCKL3W3	Definitive	Biomarker	[82]
RPS27	OTFXKY7P	Definitive	Biomarker	[35]
------------------------------------------------------------------------------------


⏷ Show the Full List of 40 DOT(s)

References

1	URL: http://www.guidetopharmacology.org Nucleic Acids Res. 2015 Oct 12. pii: gkv1037. The IUPHAR/BPS Guide to PHARMACOLOGY in 2016: towards curated quantitative interactions between 1300 protein targets and 6000 ligands. (Ligand id: 4550).
2	Drugs@FDA. U.S. Food and Drug Administration. U.S. Department of Health & Human Services. 2015
3	Clinical and molecular genetic spectrum of congenital deficiency of the leptin receptor.N Engl J Med. 2007 Jan 18;356(3):237-47. doi: 10.1056/NEJMoa063988.
4	Hearing loss in a family affected by Fabry disease.J Inherit Metab Dis. 2007 Jun;30(3):370-4. doi: 10.1007/s10545-007-0523-0. Epub 2007 May 9.
5	High-frequency detection of deletions and variable rearrangements at the ornithine transcarbamylase (OTC) locus by oligonucleotide array CGH.Mol Genet Metab. 2009 Mar;96(3):97-105. doi: 10.1016/j.ymgme.2008.11.167. Epub 2009 Jan 12.
6	A common mutation, R208X, identified in Vietnamese patients with mitochondrial acetoacetyl-CoA thiolase (T2) deficiency.Mol Genet Metab. 2010 May;100(1):37-41. doi: 10.1016/j.ymgme.2010.01.007. Epub 2010 Jan 21.
7	Primary hyperoxaluria type 1 in the Canary Islands: a conformational disease due to I244T mutation in the P11L-containing alanine:glyoxylate aminotransferase.Proc Natl Acad Sci U S A. 2003 Jun 10;100(12):7277-82. doi: 10.1073/pnas.1131968100. Epub 2003 May 30.
8	Neurological symptoms in Hypophosphatasia.Osteoporos Int. 2019 Feb;30(2):469-480. doi: 10.1007/s00198-018-4691-6. Epub 2018 Sep 13.
9	Expression of aspartoacylase (ASPA) and Canavan disease.Gene. 2012 Sep 1;505(2):206-10. doi: 10.1016/j.gene.2012.06.036. Epub 2012 Jun 28.
10	Carbonic anhydrase II deficiency: diagnosis and carrier detection using differential enzyme inhibition and inactivation.Am J Hum Genet. 1986 Feb;38(2):125-36.
11	Treatment of Cystathionine -Synthase Deficiency in Mice Using a Minicircle-Based Naked DNA Vector.Hum Gene Ther. 2019 Sep;30(9):1093-1100. doi: 10.1089/hum.2019.014. Epub 2019 Jun 13.
12	Two CES1 gene mutations lead to dysfunctional carboxylesterase 1 activity in man: clinical significance and molecular basis. Am J Hum Genet. 2008 Jun;82(6):1241-8. doi: 10.1016/j.ajhg.2008.04.015. Epub 2008 May 15.
13	Identification and characterization of an inborn error of metabolism caused by dihydrofolate reductase deficiency.Am J Hum Genet. 2011 Feb 11;88(2):216-25. doi: 10.1016/j.ajhg.2011.01.004.
14	The association of polymorphisms in the type 1 and 2 deiodinase genes with circulating thyroid hormone parameters and atrophy of the medial temporal lobe.J Clin Endocrinol Metab. 2007 Feb;92(2):636-40. doi: 10.1210/jc.2006-1331. Epub 2006 Nov 14.
15	The fundamental importance of human galactose metabolism: lessons from genetics and biochemistry.Trends Genet. 1998 Mar;14(3):98-102. doi: 10.1016/s0168-9525(97)01379-6.
16	Expanding the molecular diversity and phenotypic spectrum of glycerol 3-phosphate dehydrogenase 1 deficiency.J Inherit Metab Dis. 2016 Sep;39(5):689-695. doi: 10.1007/s10545-016-9956-7. Epub 2016 Jul 1.
17	Glycolate Oxidase Is a Safe and Efficient Target for Substrate Reduction Therapy in a Mouse Model of Primary Hyperoxaluria Type I.Mol Ther. 2016 Apr;24(4):719-25. doi: 10.1038/mt.2015.224. Epub 2015 Dec 22.
18	Tay-Sachs disease as a model for screening inborn errors.Clin Lab Med. 1992 Sep;12(3):463-80.
19	The X-ray crystal structure of human beta-hexosaminidase B provides new insights into Sandhoff disease.J Mol Biol. 2003 May 2;328(3):669-81. doi: 10.1016/s0022-2836(03)00311-5.
20	Acute intermittent porphyria: a single-base deletion and a nonsense mutation in the human hydroxymethylbilane synthase gene, predicting truncations of the enzyme polypeptide.Am J Med Genet. 1995 Aug 28;58(2):155-8. doi: 10.1002/ajmg.1320580213.
21	Hereditary lecithin-cholesterol acyltransferase deficiency. Case report of a German patient.Am J Clin Pathol. 1987 Oct;88(4):510-6. doi: 10.1093/ajcp/88.4.510.
22	Use of a long-chain triglyceride-restricted/medium-chain triglyceride-supplemented diet in a case of malonyl-CoA decarboxylase deficiency with cardiomyopathy.J Inherit Metab Dis. 2010 Dec;33 Suppl 3:S253-6. doi: 10.1007/s10545-010-9137-z. Epub 2010 Jun 15.
23	A novel missense mutation in MVK associated with MK deficiency and dyserythropoietic anemia.Pediatrics. 2010 Apr;125(4):e964-8. doi: 10.1542/peds.2009-1774. Epub 2010 Mar 1.
24	Vitamin B6-responsive ornithine aminotransferase deficiency with a novel mutation G237D.Tohoku J Exp Med. 2005 Apr;205(4):335-42. doi: 10.1620/tjem.205.335.
25	Phenylketonuria: Current Treatments and Future Developments.Drugs. 2019 Apr;79(5):495-500. doi: 10.1007/s40265-019-01079-z.
26	Platelet-activating factor acetylhydrolase deficiency. A missense mutation near the active site of an anti-inflammatory phospholipase.J Clin Invest. 1996 Jun 15;97(12):2784-91. doi: 10.1172/JCI118733.
27	Fifty years of lyase and a moment of truth: sphingosine phosphate lyase from discovery to disease.J Lipid Res. 2019 Mar;60(3):456-463. doi: 10.1194/jlr.S091181. Epub 2019 Jan 11.
28	Extended Abstract: Deficiency of Sodium Taurocholate Cotransporting Polypeptide (SLC10A1): A New Inborn Error of Metabolism with an Attenuated Phenotype.Dig Dis. 2017;35(3):259-260. doi: 10.1159/000450984. Epub 2017 Mar 1.
29	[Inborn errors of metabolism in adult neurology].Rev Neurol (Paris). 2013 Feb;169 Suppl 1:S63-9. doi: 10.1016/S0035-3787(13)70062-6.
30	Prenatal diagnosis of glycogen storage disease type 1b using denaturing high performance liquid chromatography.Prenat Diagn. 2000 Sep;20(9):765-8. doi: 10.1002/1097-0223(200009)20:9<765::aid-pd893>3.0.co;2-s.
31	Reversible severe combined immunodeficiency phenotype secondary to a mutation of the proton-coupled folate transporter.Clin Immunol. 2009 Dec;133(3):287-94. doi: 10.1016/j.clim.2009.08.006. Epub 2009 Sep 9.
32	Choline-related-inherited metabolic diseases-A mini review.J Inherit Metab Dis. 2019 Mar;42(2):237-242. doi: 10.1002/jimd.12011. Epub 2019 Jan 25.
33	Somatic and germinal mosaicism for the steroid sulfatase gene deletion in a steroid sulfatase deficiency carrier.J Invest Dermatol. 2002 Oct;119(4):972-5. doi: 10.1046/j.1523-1747.2002.t01-1-00185.x.
34	Mutations in TKT Are the Cause of a Syndrome Including Short Stature, Developmental Delay, and Congenital Heart Defects. Am J Hum Genet. 2016 Jun 2;98(6):1235-1242. doi: 10.1016/j.ajhg.2016.03.030.
35	Mapping of IDUA gene variants in Pakistani patients with mucopolysaccharidosis type 1.J Pediatr Endocrinol Metab. 2019 Nov 26;32(11):1221-1227. doi: 10.1515/jpem-2019-0188.
36	Inherited human cPLA(2alpha) deficiency is associated with impaired eicosanoid biosynthesis, small intestinal ulceration, and platelet dysfunction. J Clin Invest. 2008 Jun;118(6):2121-31. doi: 10.1172/JCI30473.
37	Mutations in ABCD4 cause a new inborn error of vitamin B12 metabolism. Nat Genet. 2012 Oct;44(10):1152-5. doi: 10.1038/ng.2386. Epub 2012 Aug 26.
38	Neonatal intrahepatic cholestasis caused by citrin deficiency: clinical and laboratory investigation of 13 subjects in mainland of China.Dig Liver Dis. 2009 Sep;41(9):683-9. doi: 10.1016/j.dld.2008.11.014. Epub 2009 Jan 29.
39	Functional disruption of pyrimidine nucleoside transporter CNT1 results in a novel inborn error of metabolism with high excretion of uridine and cytidine.J Inherit Metab Dis. 2019 May;42(3):494-500. doi: 10.1002/jimd.12081. Epub 2019 Apr 8.
40	Characterization of a novel variant in siblings with Asparagine Synthetase Deficiency.Mol Genet Metab. 2018 Mar;123(3):317-325. doi: 10.1016/j.ymgme.2017.12.433. Epub 2017 Dec 20.
41	Autism spectrum disorder: an early and frequent feature in cerebrotendinous xanthomatosis.J Inherit Metab Dis. 2018 Jul;41(4):641-646. doi: 10.1007/s10545-017-0086-7. Epub 2017 Sep 11.
42	Congenital neurogenic muscular atrophy in megaconial myopathy due to a mutation in CHKB gene.Brain Dev. 2016 Jan;38(1):167-72. doi: 10.1016/j.braindev.2015.05.008. Epub 2015 May 23.
43	Methylation status of HPRT1 promoter in HPRT deficiency with normal coding region.Nucleosides Nucleotides Nucleic Acids. 2010 Jun;29(4-6):301-5. doi: 10.1080/15257771003738675.
44	The first case in Asia of 2-methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency (HSD10 disease) with atypical presentation.J Hum Genet. 2014 Nov;59(11):609-14. doi: 10.1038/jhg.2014.79. Epub 2014 Sep 18.
45	A novel UPLC-MS/MS based method to determine the activity of N-acetylglutamate synthase in liver tissue.Mol Genet Metab. 2016 Dec;119(4):307-310. doi: 10.1016/j.ymgme.2016.10.004. Epub 2016 Oct 13.
46	Clinical, laboratory and molecular findings and long-term follow-up data in 96 French patients with PMM2-CDG (phosphomannomutase 2-congenital disorder of glycosylation) and review of the literature.J Med Genet. 2017 Dec;54(12):843-851. doi: 10.1136/jmedgenet-2017-104903. Epub 2017 Sep 27.
47	Autozygosity mapping of methylmalonic acidemia associated genes by short tandem repeat markers facilitates the identification of five novel mutations in an Iranian patient cohort.Metab Brain Dis. 2018 Oct;33(5):1689-1697. doi: 10.1007/s11011-018-0277-4. Epub 2018 Jul 18.
48	Screening of MCAD deficiency in Japan: 16years' experience of enzymatic and genetic evaluation.Mol Genet Metab. 2016 Dec;119(4):322-328. doi: 10.1016/j.ymgme.2016.10.007. Epub 2016 Oct 21.
49	Aminoacylase I deficiency due to ACY1 mRNA exon skipping.Clin Genet. 2014 Oct;86(4):367-72. doi: 10.1111/cge.12297. Epub 2013 Nov 18.
50	Mutational analysis of GALT gene in Greek patients with galactosaemia: identification of two novel mutations and clinical evaluation.Scand J Clin Lab Invest. 2017 Oct;77(6):423-427. doi: 10.1080/00365513.2017.1334262. Epub 2017 Jun 23.
51	Molecular genetic study of glutaric aciduria, type I: Identification of a novel mutation.J Cell Biochem. 2019 Mar;120(3):3367-3372. doi: 10.1002/jcb.27607. Epub 2018 Sep 11.
52	Toward a generalized computational workflow for exploiting transient pockets as new targets for small molecule stabilizers: Application to the homogentisate 1,2-dioxygenase mutants at the base of rare disease Alkaptonuria.Comput Biol Chem. 2017 Oct;70:133-141. doi: 10.1016/j.compbiolchem.2017.08.008. Epub 2017 Aug 25.
53	Identification of a novel homozygous variant confirms ITPA as a developmental and epileptic encephalopathy gene.Am J Med Genet A. 2019 May;179(5):857-861. doi: 10.1002/ajmg.a.61103. Epub 2019 Feb 28.
54	The emerging role of the mitochondrial fatty-acid synthase (mtFASII) in the regulation of energy metabolism.Biochim Biophys Acta Mol Cell Biol Lipids. 2019 Nov;1864(11):1629-1643. doi: 10.1016/j.bbalip.2019.07.012. Epub 2019 Jul 31.
55	ADAMTSL2 mutations in geleophysic dysplasia demonstrate a role for ADAMTS-like proteins in TGF-beta bioavailability regulation. Nat Genet. 2008 Sep;40(9):1119-23. doi: 10.1038/ng.199.
56	Novel proton MR spectroscopy findings in adenylosuccinate lyase deficiency.J Magn Reson Imaging. 2013 Apr;37(4):974-80. doi: 10.1002/jmri.23852. Epub 2012 Oct 10.
57	A genome-wide association study of metabolic traits in human urine.Nat Genet. 2011 Jun;43(6):565-9. doi: 10.1038/ng.837. Epub 2011 May 15.
58	ALG11-CDG syndrome: Expanding the phenotype. Am J Med Genet A. 2019 Mar;179(3):498-502. doi: 10.1002/ajmg.a.61046. Epub 2019 Jan 24.
59	A nonsense mutation is responsible for the RNA-negative phenotype in human citrullinaemia.Eur J Hum Genet. 2001 Sep;9(9):685-9. doi: 10.1038/sj.ejhg.5200695.
60	A rare case of primary coenzyme Q10 deficiency due to COQ9 mutation.J Pediatr Endocrinol Metab. 2020 Jan 28;33(1):165-170. doi: 10.1515/jpem-2019-0245.
61	Cloning of dimethylglycine dehydrogenase and a new human inborn error of metabolism, dimethylglycine dehydrogenase deficiency. Am J Hum Genet. 2001 Apr;68(4):839-47. doi: 10.1086/319520. Epub 2001 Feb 28.
62	Clinical, biochemical, and genetic features of four patients with short-chain enoyl-CoA hydratase (ECHS1) deficiency.Am J Med Genet A. 2018 May;176(5):1115-1127. doi: 10.1002/ajmg.a.38658. Epub 2018 Mar 25.
63	Hereditary Tyrosinemia Type 1 in Turkey.Adv Exp Med Biol. 2017;959:157-172. doi: 10.1007/978-3-319-55780-9_15.
64	Riboflavin-Responsive and -Non-responsive Mutations in FAD Synthase Cause Multiple Acyl-CoA Dehydrogenase and Combined Respiratory-Chain Deficiency. Am J Hum Genet. 2016 Jun 2;98(6):1130-1145. doi: 10.1016/j.ajhg.2016.04.006.
65	Characterization of the human glycerol kinase promoter: identification of a functional HNF-4alpha binding site and evidence for transcriptional activation.Mol Genet Metab. 2003 Dec;80(4):412-8. doi: 10.1016/j.ymgme.2003.10.003.
66	Diagnosis of LCHAD/TFP deficiency in an at risk newborn using umbilical cord blood acylcarnitine analysis.Mol Genet Metab Rep. 2016 Dec 9;10:8-10. doi: 10.1016/j.ymgmr.2016.11.007. eCollection 2017 Mar.
67	HIBCH deficiency in a patient with phenotypic characteristics of mitochondrial disorders.Am J Med Genet A. 2014 Dec;164A(12):3162-9. doi: 10.1002/ajmg.a.36766. Epub 2014 Sep 23.
68	Cortical brain malformations: effect of clinical, neuroradiological, and modern genetic classification.Arch Neurol. 2008 Mar;65(3):358-66. doi: 10.1001/archneur.65.3.358.
69	A missense mutation found in human lactate dehydrogenase-B (H) variant gene.Biochem Biophys Res Commun. 1990 Apr 30;168(2):672-6. doi: 10.1016/0006-291x(90)92373-8.
70	Functional Assessment of Lipoyltransferase-1 Deficiency in Cells, Mice, and Humans.Cell Rep. 2019 Apr 30;27(5):1376-1386.e6. doi: 10.1016/j.celrep.2019.04.005.
71	Epidemiology of mental retardation--a Swedish survey.Brain Dev. 1983;5(5):441-9. doi: 10.1016/s0387-7604(83)80072-2.
72	Crystal structure and mutagenesis of the metallochaperone MeaB: insight into the causes of methylmalonic aciduria.J Biol Chem. 2007 Oct 26;282(43):31308-16. doi: 10.1074/jbc.M704850200. Epub 2007 Aug 28.
73	Incidence of PKAN determined by bioinformatic and population-based analysis of ~140,000 humans.Mol Genet Metab. 2019 Dec;128(4):463-469. doi: 10.1016/j.ymgme.2019.09.002. Epub 2019 Sep 12.
74	Mild phenotype in a male with pyruvate dehydrogenase complex deficiency associated with novel hemizygous in-frame duplication of the E1 subunit gene (PDHA1).Neuropediatrics. 2014 Feb;45(1):56-60. doi: 10.1055/s-0033-1341601. Epub 2013 Apr 9.
75	Placental sulfatase deficiency: maternal and fetal expression of steroid sulfatase deficiency and X-linked ichthyosis.Obstet Gynecol Surv. 1986 Jul;41(7):401-13.
76	Mutations in SELENBP1, encoding a novel human methanethiol oxidase, cause extraoral halitosis. Nat Genet. 2018 Jan;50(1):120-129. doi: 10.1038/s41588-017-0006-7. Epub 2017 Dec 18.
77	Replacement of Leu227 by Pro in thyroxine-binding globulin (TBG) is associated with complete TBG deficiency in three of eight families with this inherited defect.J Clin Endocrinol Metab. 1990 Mar;70(3):804-9. doi: 10.1210/jcem-70-3-804.
78	Rapid degradation of an active formylglycine generating enzyme variant leads to a late infantile severe form of multiple sulfatase deficiency.Eur J Hum Genet. 2013 Sep;21(9):1020-3. doi: 10.1038/ejhg.2012.291. Epub 2013 Jan 16.
79	Prenatal diagnosis of molybdenum cofactor deficiency and isolated sulfite oxidase deficiency.Prenat Diagn. 2003 Jan;23(1):6-8. doi: 10.1002/pd.505.
80	Temporary myoclonus with treatment of congenital transcobalamin 2 deficiency.Pediatr Neurol. 2001 Jan;24(1):75-6. doi: 10.1016/s0887-8994(00)00235-6.
81	Human triosephosphate isomerase deficiency resulting from mutation of Phe-240.Am J Hum Genet. 1993 Jun;52(6):1260-9.
82	MYO5B mutations cause microvillus inclusion disease and disrupt epithelial cell polarity. Nat Genet. 2008 Oct;40(10):1163-5. doi: 10.1038/ng.225. Epub 2008 Aug 24.