KEGG   DISEASE: H00183Help
Entry
H00183                      Disease                                

Name
Homocystinuria
Description
Homocystinuria is a metabolic disorder due to cystathionine beta-synthase deficiency leading to various malfunctions in the eyes and the central nervous, skeletal, and vascular systems.
Category
Inherited metabolic disease; Nervous system disease; Cardiovascular disease
BRITE hierarchy
Pathway
Glycine, serine and threonine metabolism
Cysteine and methionine metabolism
Selenoamino acid metabolism
One carbon pool by folate
Gene
CBS; cystathionine beta-synthase [HSA:875] [KO:K01697]
MTRR [HSA:4552] [KO:K00597]
MTHFR [HSA:4524] [KO:K00297]
Marker
Methionine [CPD:C00073]
Homocysteine [CPD:C00155]
Drug
Betaine [DR:D07523]
Pyridoxine [DR:D08454]
Other DBs
ICD-10: 
MeSH: 
OMIM: 
Reference
  Authors
Kraus JP, Janosik M, Kozich V, Mandell R, Shih V, Sperandeo MP, Sebastio G, de Franchis R, Andria G, Kluijtmans LA, Blom H, Boers GH, Gordon RB, Kamoun P, Tsai MY, Kruger WD, Koch HG, Ohura T, Gaustadnes M
  Title
Cystathionine beta-synthase mutations in homocystinuria.
  Journal
Hum Mutat 13:362-75 (1999)
Reference
  Authors
Orendac M, Zeman J, Stabler SP, Allen RH, Kraus JP, Bodamer O, Stockler-Ipsiroglu S, Kvasnicka J, Kozich V
  Title
Homocystinuria due to cystathionine beta-synthase deficiency: novel biochemical findings and treatment efficacy.
  Journal
J Inherit Metab Dis 26:761-73 (2003)
Reference
PMID:9587026
  Authors
Kraus JP
  Title
Biochemistry and molecular genetics of cystathionine beta-synthase deficiency.
  Journal
Eur J Pediatr 157 Suppl 2:S50-3 (1998)
Reference
PMID:9587033
  Authors
Fowler B, Jakobs C
  Title
Post- and prenatal diagnostic methods for the homocystinurias.
  Journal
Eur J Pediatr 157 Suppl 2:S88-93 (1998)

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