KEGG   DISEASE: Cystathioninuria
Entry
H00182                      Disease                                
Name
Cystathioninuria
Description
Hereditary cystathioninuria is caused by deficiency of the activity of cystathionine gamma-lyase, which is normally required for the conversion of methionine into cysteine. Patients with cystathioninuria may have mild to moderate hyperhomocysteinemia.
Category
Inherited metabolic disorder
Brite
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
     H00182  Cystathioninuria
Pathway-based classification of diseases [BR:br08402]
 Amino acid metabolism
  nt06030  Methionine metabolism
   H00182  Cystathioninuria
Pathway
hsa00270  Cysteine and methionine metabolism
Network
nt06030 Methionine metabolism
Gene
CTH [HSA:1491] [KO:K01758]
Other DBs
ICD-11: 5C50.B
ICD-10: E72.1
MeSH: C535408
OMIM: 219500
Reference
PMID:16702350
  Authors
Finkelstein JD
  Title
Inborn errors of sulfur-containing amino acid metabolism.
  Journal
J Nutr 136:1750S-1754S (2006)
DOI:10.1093/jn/136.6.1750S
Reference
PMID:12574942
  Authors
Wang J, Hegele RA
  Title
Genomic basis of cystathioninuria (MIM 219500) revealed by multiple mutations in cystathionine gamma-lyase (CTH).
  Journal
Hum Genet 112:404-8 (2003)
DOI:10.1007/s00439-003-0906-8
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