Condition: Homocystinuria-Megaloblastic Anemia due to Defect in Cobalamin Metabolism, CblE Complementation Type


rs137853061 in MTRR gene and Homocystinuria-Megaloblastic Anemia due to Defect in Cobalamin Metabolism, CblE Complementation Type PMID 9501215 1998 Cloning and mapping of a cDNA for methionine synthase reductase, a flavoprotein defective in patients with homocystinuria.

PMID 10484769 1999 Molecular basis for methionine synthase reductase deficiency in patients belonging to the cblE complementation group of disorders in folatecobalamin metabolism.

PMID 25526710 2015 Clinical onset and course, response to treatment and outcome in 24 patients with the cblE or cblG remethylation defect complemented by genetic and in vitro enzyme study data.