Defective MTR causes methylmalonic aciduria and homocystinuria type cblG

Stable Identifier
R-HSA-3359469
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Pathway
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Homo sapiens
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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
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