KEGG   DISEASE: H00184Help
Entry
H00184                      Disease                                

Name
Hypermethioninemia;
Methionine adenosyltransferase deficiency;
S-adenosylhomocysteine hydrolase deficiency
Description
Hypermethioninemia is an inborn error of methionine metabolism.
Category
Inherited metabolic disease
BRITE hierarchy
Pathway
Cysteine and methionine metabolism
Selenoamino acid metabolism
Glycine, serine and threonine metabolism
Gene
MAT1A [HSA:4143] [KO:K00789]
AHCY [HSA:191] [KO:K01251]
GNMT [HSA:27232] [KO:K00552]
Other DBs
ICD-10: 
MeSH: 
OMIM: 
Reference
  Authors
Baric I, Fumic K, Glenn B, Cuk M, Schulze A, Finkelstein JD, James SJ, Mejaski-Bosnjak V, Pazanin L, Pogribny IP, Rados M, Sarnavka V, Scukanec-Spoljar M, Allen RH, Stabler S, Uzelac L, Vugrek O, Wagner C, Zeisel S, Mudd SH
  Title
S-adenosylhomocysteine hydrolase deficiency in a human: a genetic disorder of methionine metabolism.
  Journal
Proc Natl Acad Sci U S A 101:4234-9 (2004)
Reference
  Authors
Mudd SH, Jenden DJ, Capdevila A, Roch M, Levy HL, Wagner C
  Title
Isolated hypermethioninemia: measurements of S-adenosylmethionine and choline.
  Journal
Metabolism 49:1542-7 (2000)
Reference
  Authors
Mudd SH
  Title
Hypermethioninemias of genetic and non-genetic origin: A review.
  Journal
Am J Med Genet C Semin Med Genet 157:3-32 (2011)
Reference
PMID:9612070 (Japanese)
  Authors
Nagao M
  Title
[Molecular pathology and DNA diagnosis of phenylketonuria and hypermethioninemia].
  Journal
Tanpakushitsu Kakusan Koso 43:762-9 (1998)

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