Defective MTR causes methylmalonic aciduria and homocystinuria type cblG

Stable Identifier
Homo sapiens
Locations in the PathwayBrowser
SVG |   | PPTX  | SBGN
Click the image above or here to open this pathway in the Pathway Browser

Defects in MTR cause methylcobalamin deficiency type G (cblG; MIM:250940), an autosomal recessive inherited disease that causes mental retardation, macrocytic anemia, and homocystinuria (Leclerc et al. 1996, Gulati et al. 1996, Watkins et al. 2002).

Literature References
PubMed ID Title Journal Year
12068375 Hyperhomocysteinemia due to methionine synthase deficiency, cblG: structure of the MTR gene, genotype diversity, and recognition of a common mutation, P1173L

Watkins, D, Ru, M, Hwang, HY, Kim, CD, Murray, A, Philip, NS, Kim, W, Legakis, H, Wai, T, Hilton, JF, Ge, B, Doré, C, Hosack, A, Wilson, A, Gravel, RA, Shane, B, Hudson, TJ, Rosenblatt, DS

Am. J. Hum. Genet. 2002
8968737 Human methionine synthase: cDNA cloning and identification of mutations in patients of the cblG complementation group of folate/cobalamin disorders

Leclerc, D, Campeau, E, Goyette, P, Adjalla, CE, Christensen, B, Ross, M, Eydoux, P, Rosenblatt, DS, Rozen, R, Gravel, RA

Hum Mol Genet 1996
8968736 Defects in human methionine synthase in cblG patients

Gulati, S, Baker, P, Li, YN, Fowler, B, Kruger, W, Brody, LC, Banerjee, R

Hum. Mol. Genet. 1996
Cross References
BioModels Database
Cite Us!