Details of Disease

General Information of Disease (ID: DISFWXCM)

• Disease Name: Inborn disorder of amino acid metabolism
• Synonyms: inborn amino acid metabolism disorder; amino acid metabolism, inborn errors; amino acid metabolic disorder; inborn error of cellular amino acid metabolic process; rare inborn error of cellular amino acid metabolic process; inherited amino acid metabolic disorder; inborn error of amino acid metabolism; inborn errors of amino acid metabolism; inborn cellular amino acid metabolic process disorder
• Definition: An inherited disorder that affects the metabolism of the amino acids. Representative examples include alkaptonuria, homocystinuria, tyrosinemia, and phenylketonuria.
• Disease Hierarchy:
  DIS6708Y: Amino acid metabolism disease
  DISO5FAY: Inborn error of metabolism
  DISFWXCM: Inborn disorder of amino acid metabolism
• Disease Identifiers:
  MONDO ID: MONDO_0004736
  MESH ID: D000592
  UMLS CUI: C0002514
  MedGen ID: 1867
  SNOMED CT ID: 190680002

Molecular Interaction Atlas (MIA) of This Disease

This Disease Is Related to 5 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
PAH	TTGSVH2	Limited	Genetic Variation	[1]
AHCY	TTE2KUJ	Strong	Biomarker	[2]
ARG1	TT7ZQEV	Strong	Biomarker	[3]
EIF2AK4	TT9U4EP	Strong	Biomarker	[3]
OAT	TTTSCQ2	Strong	Genetic Variation	[4]

This Disease Is Related to 2 DTP Molecule(s)

Gene Name	DTP ID	Evidence Level	Mode of Inheritance	REF
SLC6A19	DTOTAUP	Limited	Biomarker	[5]
SLC7A7	DTE4HJ8	Strong	Biomarker	[6]

This Disease Is Related to 3 DME Molecule(s)

Gene Name	DME ID	Evidence Level	Mode of Inheritance	REF
GCLC	DESYL1F	Strong	Biomarker	[7]
MAT1A	DEQ6NC9	Strong	Biomarker	[8]
PRODH	DEVJIHS	Strong	Biomarker	[9]

This Disease Is Related to 6 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
ARID4B	OTYLPILE	Limited	Genetic Variation	[10]
PSPH	OTV1PVAX	Limited	Biomarker	[11]
SECISBP2	OTBXUURJ	Limited	Biomarker	[12]
ALDH6A1	OT8LCZCT	Strong	Biomarker	[13]
D2HGDH	OTLHXW69	Strong	Biomarker	[14]
GAMT	OTVC87ES	Strong	Biomarker	[15]

References

• [1] Molecular genetics of a cohort of 635 cases of phenylketonuria in a consanguineous population.J Inherit Metab Dis. 2018 Nov;41(6):1159-1167. doi: 10.1007/s10545-018-0228-6. Epub 2018 Aug 29.
• [2] S-adenosylhomocysteine hydrolase deficiency in a human: a genetic disorder of methionine metabolism. Proc Natl Acad Sci U S A. 2004 Mar 23;101(12):4234-9. doi: 10.1073/pnas.0400658101. Epub 2004 Mar 15.
• [3] Arginine deficiency causes runting in the suckling period by selectively activating the stress kinase GCN2.J Biol Chem. 2011 Mar 18;286(11):8866-74. doi: 10.1074/jbc.M110.216119. Epub 2011 Jan 14.
• [4] Peripheral nervous system in gyrate atrophy of the choroid and retina with hyperornithinemia.Neurology. 2002 Sep 10;59(5):735-40. doi: 10.1212/wnl.59.5.735.
• [5] Inhibiting neutral amino acid transport for the treatment of phenylketonuria.JCI Insight. 2018 Jul 26;3(14):e121762. doi: 10.1172/jci.insight.121762. eCollection 2018 Jul 26.
• [6] Vascular endothelial dysfunction resulting from L-arginine deficiency in a patient with lysinuric protein intolerance. J Clin Invest. 2001 Sep;108(5):717-24. doi: 10.1172/JCI11260.
• [7] The molecular basis of a case of gamma-glutamylcysteine synthetase deficiency. Blood. 1999 Oct 15;94(8):2890-4.
• [8] Demyelination of the brain is associated with methionine adenosyltransferase I/III deficiency. J Clin Invest. 1996 Aug 15;98(4):1021-7. doi: 10.1172/JCI118862.
• [9] Early neurological phenotype in 4 children with biallelic PRODH mutations.Brain Dev. 2007 Oct;29(9):547-52. doi: 10.1016/j.braindev.2007.01.008. Epub 2007 Apr 6.
• [10] Maple Syrup Urine Disease Complicated with Kyphoscoliosis and Myelopathy.Pediatr Neonatol. 2016 Oct;57(5):431-435. doi: 10.1016/j.pedneo.2013.10.013. Epub 2014 Jan 30.
• [11] Mutations responsible for 3-phosphoserine phosphatase deficiency. Eur J Hum Genet. 2004 Feb;12(2):163-6. doi: 10.1038/sj.ejhg.5201083.
• [12] Mutations in SECISBP2 result in abnormal thyroid hormone metabolism. Nat Genet. 2005 Nov;37(11):1247-52. doi: 10.1038/ng1654. Epub 2005 Oct 16.
• [13] Molecular characterization of methylmalonate semialdehyde dehydrogenase deficiency. J Inherit Metab Dis. 2000 Jul;23(5):497-504. doi: 10.1023/a:1005616315087.
• [14] Mutations in the D-2-hydroxyglutarate dehydrogenase gene cause D-2-hydroxyglutaric aciduria. Am J Hum Genet. 2005 Feb;76(2):358-60. doi: 10.1086/427890. Epub 2004 Dec 17.
• [15] Guanidinoacetate methyltransferase deficiency identified in adults and a child with mental retardation.Am J Med Genet A. 2005 Mar 1;133A(2):122-7. doi: 10.1002/ajmg.a.30226.