H01285 | |
H number | H01285 |
Name | Methylcobalamin deficiency type G |
Description | Methylcobalamin deficiency type G (cblG) is an autosomal recessive disease characterized by homocystinuria, hyperhomocysteinemia, and hypomethioninemia. Mutations in the MTR gene, which encodes methionine synthase result in this disease. |
Category | Inherited metabolic disorder |
Network | - |
Gene | MTR [HSA:4548] [KO:K00548] |
Pathogen | - |
Env factor | - |
Carcinogen | - |
Drug | - |
Comment | - |
Other DBs | ICD-11: 5C50.B ICD-10: E72.1 MeSH: C565394 OMIM: 250940 |
Reference | PMID:12068375 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 |