KEGG   DISEASE: Hypermethioninemia
Entry
H00184                      Disease                                

Name
Hypermethioninemia
  Subgroup
Methionine adenosyltransferase deficiency
S-adenosylhomocysteine hydrolase deficiency
Adenosine kinase 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-11 classification [BR:br08403]
 05 Endocrine, nutritional or metabolic diseases
  Metabolic disorders
   Inborn errors of metabolism
    5C50  Inborn errors of amino acid or other organic acid metabolism
     H00184  Hypermethioninemia
Pathway
hsa00270  Cysteine and methionine metabolism
hsa00450  Selenocompound metabolism
hsa00260  Glycine, serine and threonine metabolism
hsa00230  Purine metabolism
Gene
MAT1A [HSA:4143] [KO:K00789]
AHCY [HSA:191] [KO:K01251]
GNMT [HSA:27232] [KO:K00552]
ADK [HSA:132] [KO:K00856]
Other DBs
ICD-11: 5C50.B
ICD-10: E72.1
MeSH: C564683
OMIM: 250850 180960 606664 614300
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)
DOI:10.1073/pnas.0400658101
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)
DOI:10.1053/meta.2000.18521
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)
DOI:10.1002/ajmg.c.30293
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)
LinkDB

» Japanese version

DBGET integrated database retrieval system