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).
|methylmalonic aciduria and homocystinuria type cblG||0050733|
|8968736||Defects in human methionine synthase in cblG patients||Hum. Mol. Genet.||1996|
|8968737||Human methionine synthase: cDNA cloning and identification of mutations in patients of the cblG complementation group of folate/cobalamin disorders||Hum Mol Genet||1996|
|12068375||Hyperhomocysteinemia due to methionine synthase deficiency, cblG: structure of the MTR gene, genotype diversity, and recognition of a common mutation, P1173L||Am. J. Hum. Genet.||2002|