KEGG   DISEASE: Homocystinuria
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
Congenital disorder of metabolism
Brite
Human diseases [BR:br08402]
 Congenital disorders of metabolism
  Congenital disorders of amino acid metabolism
   H00183  Homocystinuria
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
     H00183  Homocystinuria
Related
pathway
hsa00260  Glycine, serine and threonine metabolism
hsa00270  Cysteine and methionine metabolism
hsa00670  One carbon pool by folate
Gene
CBS [HSA:875] [KO:K01697]
MTRR [HSA:4552] [KO:K00597]
MTHFR [HSA:4524] [KO:K25004]
Drug
Betaine [DR:D07523]
Other DBs
ICD-11: 5C50.B
ICD-10: E72.1
MeSH: D006712
OMIM: 236200 236270 236250
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
Reference
PMID:14739681 (CBS)
  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)
DOI:10.1023/B:BOLI.0000009963.88420.c2
Reference
PMID:23430521 (MTRR)
  Authors
Palanca D, Garcia-Cazorla A, Ortiz J, Jou C, Cusi V, Sunol M, Toll T, Perez B, Ormazabal A, Fowler B, Artuch R
  Title
cblE-Type Homocystinuria Presenting with Features of Haemolytic-Uremic Syndrome in the Newborn Period.
  Journal
JIMD Rep 8:57-62 (2013)
DOI:10.1007/8904_2012_161
Reference
PMID:9781030 (MTHFR)
  Authors
Kluijtmans LA, Wendel U, Stevens EM, van den Heuvel LP, Trijbels FJ, Blom HJ
  Title
Identification of four novel mutations in severe methylenetetrahydrofolate reductase deficiency.
  Journal
Eur J Hum Genet 6:257-65 (1998)
DOI:10.1038/sj.ejhg.5200182

» Japanese version

DBGET integrated database retrieval system