KEGG   DISEASE: Homocystinuria
Entry
H00183                      Disease                                
Name
Homocystinuria
  Subgroup
Methylcobalamin deficiency type G [DS:H01285]
Homocystinuria-megaloblastic anemia, cblE complementation type (HMAE)
Homocystinuria-megaloblastic anemia, cblG complementation type (HMAG)
Description
Homocystinuria (HC) 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 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
     H00183  Homocystinuria
Pathway-based classification of diseases [BR:br08402]
 Amino acid metabolism
  nt06030  Methionine metabolism
   H00183  Homocystinuria
 Cofactor/vitamin metabolism
  nt06538  Cobalamin transport and metabolism
   H00183  Homocystinuria
Pathway
hsa00270  Cysteine and methionine metabolism
hsa00670  One carbon pool by folate
Network
nt06030 Methionine metabolism
nt06538 Cobalamin transport and metabolism
Gene
CBS [HSA:875] [KO:K01697]
MTHFR [HSA:4524] [KO:K25004]
(HMAE) MTRR [HSA:4552] [KO:K00597]
(HMAG) MTR [HSA:4548] [KO:K00548]
Drug
Betaine [DR:D07523]
Other DBs
ICD-11: 5C50.B
ICD-10: E72.1
MeSH: D006712
OMIM: 236200 236250 236270 250940
Reference
PMID:10338090
  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)
DOI:10.1002/(SICI)1098-1004(1999)13:5<362::AID-HUMU4>3.0.CO;2-K
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: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
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:12068375 (MTR)
  Authors
Watkins D, Ru M, Hwang HY, Kim CD, Murray A, Philip NS, Kim W, Legakis H, Wai T, Hilton JF, Ge B, Dore C, Hosack A, Wilson A, Gravel RA, Shane B, Hudson TJ, Rosenblatt DS
  Title
Hyperhomocysteinemia due to methionine synthase deficiency, cblG: structure of the MTR gene, genotype diversity, and recognition of a common mutation, P1173L.
  Journal
Am J Hum Genet 71:143-53 (2002)
DOI:10.1086/341354

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Network (6)   
   KEGG NETWORK (2)   
   KEGG VARIANT (4)   
Disease (4)   
   OMIM (4)   
Drug (1)   
   KEGG DRUG (1)   
Gene (8)   
   KEGG ORTHOLOGY (4)   
   KEGG GENES (4)   
Literature (5)   
   PubMed (5)   
All databases (24)   

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