KEGG   DISEASE: H01285Help
Entry
H01285                      Disease                                

Name
Methylcobalamin deficiency type G (cblG)
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 disease
Brite
Human diseases [BR:br08402]
 Congenital disorders of metabolism
  Congenital disorders of amino acid metabolism
   H01285  Methylcobalamin deficiency type G (cblG)
Human diseases in ICD-10 classification [BR:br08403]
 4. Endocrine, nutritional and metabolic diseases (E00-E90)
  E70-E90  Metabolic disorders
   E72  Other disorders of amino-acid metabolism
    H01285  Methylcobalamin deficiency type G (cblG)
BRITE hierarchy
Pathway
Cysteine and methionine metabolism
Selenocompound metabolism
One carbon pool by folate
Gene
MTR [HSA:4548] [KO:K00548]
Other DBs
ICD-10: 
MeSH: 
OMIM: 
Reference
  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)

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