Details of Disease

General Information of Disease (ID: DISC7OZE)

• Disease Name: Disorder of methionine catabolism
• Synonyms: rare inborn error of methionine catabolic process; inborn methionine catabolic process disorder; inborn error of methionine catabolic process; hypermethioninemia
• Definition: An inherited metabolic disease that is has its basis in the disruption of methionine catabolic process.
• Disease Hierarchy:
  DISO5FAY: Inborn error of metabolism
  DISUP794: Inborn disorder of methionine cycle and sulfur amino acid metabolism
  DIS0WTSJ: Inborn disorder of aspartate family metabolism
  DISC7OZE: Disorder of methionine catabolism
• Disease Identifiers:
  MONDO ID: MONDO_0000351
  MESH ID: C564683
  UMLS CUI: C4048705
  MedGen ID: 887708
  HPO ID: HP:0003235
  SNOMED CT ID: 43123004

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
ACAT1	TTK3C21	Strong	Genetic Variation	[1]
ADK	TTL732K	Strong	Genetic Variation	[2]
AHCY	TTE2KUJ	Strong	Biomarker	[3]
CBS	TTVZJ7G	Strong	Altered Expression	[4]
MAT2A	TTSMPXQ	Strong	Genetic Variation	[1]

This Disease Is Related to 1 DME Molecule(s)

Gene Name	DME ID	Evidence Level	Mode of Inheritance	REF
MAT1A	DEQ6NC9	Limited	Biomarker	[5]

This Disease Is Related to 3 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
FAH	OTGZA1YR	Strong	Biomarker	[6]
GNMT	OT0O2OQO	Strong	Biomarker	[7]
MCCD1	OTLS95WO	Definitive	Genetic Variation	[8]

References

• [1] MAT2A mutations predispose individuals to thoracic aortic aneurysms.Am J Hum Genet. 2015 Jan 8;96(1):170-7. doi: 10.1016/j.ajhg.2014.11.015. Epub 2014 Dec 31.
• [2] Whole exome sequencing revealed mutations in FBXL4, UNC80, and ADK in Thai patients with severe intellectual disabilities.Gene. 2019 May 15;696:21-27. doi: 10.1016/j.gene.2019.01.049. Epub 2019 Feb 14.
• [3] Abnormal Hypermethylation at Imprinting Control Regions in Patients with S-Adenosylhomocysteine Hydrolase (AHCY) Deficiency. PLoS One. 2016 Mar 14;11(3):e0151261. doi: 10.1371/journal.pone.0151261. eCollection 2016.
• [4] Mudd's disease (MAT I/III deficiency): a survey of data for MAT1A homozygotes and compound heterozygotes.Orphanet J Rare Dis. 2015 Aug 20;10:99. doi: 10.1186/s13023-015-0321-y.
• [5] Neonatal methionine adenosyltransferase I/III deficiency with abnormal signal intensity in the central tegmental tract.Brain Dev. 2019 Apr;41(4):382-388. doi: 10.1016/j.braindev.2018.10.010. Epub 2018 Oct 30.
• [6] Hypermethioninemias of genetic and non-genetic origin: A review.Am J Med Genet C Semin Med Genet. 2011 Feb 15;157C(1):3-32. doi: 10.1002/ajmg.c.30293. Epub 2011 Feb 9.
• [7] Mutations in human glycine N-methyltransferase give insights into its role in methionine metabolism. Hum Genet. 2002 Jan;110(1):68-74. doi: 10.1007/s00439-001-0648-4. Epub 2001 Dec 7.
• [8] Expanded Newborn Screening for Inborn Errors of Metabolism by Tandem Mass Spectrometry in Suzhou, China: Disease Spectrum, Prevalence, Genetic Characteristics in a Chinese Population.Front Genet. 2019 Oct 29;10:1052. doi: 10.3389/fgene.2019.01052. eCollection 2019.