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
Human diseases [BR:br08402]
 Congenital disorders of metabolism
  Congenital disorders of amino acid metabolism
   H00184  Hypermethioninemia
Human diseases in ICD-10 classification [BR:br08403]
 4. Endocrine, nutritional and metabolic diseases (E00-E90)
  E70-E90  Metabolic disorders
   E72  Other disorders of amino-acid metabolism
    H00184  Hypermethioninemia
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)

» Japanese version

DBGET integrated database retrieval system