KEGG DISEASE: Homocystinuria

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

LinkDB

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