Methionine synthase reductase (MSR) deficiency is an autosomal recessive disorder of
folate/cobalamin metabolism leading to hyperhomocysteinemia, hypo-methioninemia and …

Methionine synthase catalyzes the remethylation of homocysteine to methionine in a
methylcobalamin-dependent reaction. We used specific regions of homology within the …

Methionine synthase is an essential cobalamin-dependent enzyme in mammals that
catalyzes the transfer of a methyl group from methyltetrahydrofolate to homocysteine to give …

Methionine synthase catalyzes the remethylation of homocysteine to methionine via a
reaction in which methylcobalamin serves as an intermediate methyl carrier. Over time, the …

Methionine synthase (MS) catalyses the methylation of homocysteine to methionine and
requires the vitamin B 12 derivative, methylcobalamin, as cofactor. We and others have …

Mutations in the MTR gene, which encodes methionine synthase on human chromosome
1p43, result in the methylcobalamin deficiency G (cblG) disorder, which is characterized by …

This first detailed report of a female patient with functional methionine synthase deficiency
due to the cblE defect describes treatment with several vitamins and cofactors and clinical …

Functional methionine synthase deficiency is generally characterized by homocystinuria and
hypomethioninemia in the absence of methylmalonic aciduria. Patients are divided into two …

Abstract Methyl-Cobalamin (Cbl) derives from dietary vitamin B12 and acts as a cofactor of
methionine synthase (MS) in mammals. MS encoded by MTR catalyzes the remethylation of …

Abstract Background The cobalamin E (cblE)(MTRR, methionine synthase reductase) and
cobalamin G (cblG)(MTR, methionine synthase) defects are rare inborn errors of cobalamin …