Background Remethylation defects are rare inherited disorders in which impaired
remethylation of homocysteine to methionine leads to accumulation of homocysteine and …

As many as one-third of mutations in a gene result in the corresponding enzyme having an
increased Michaelis constant, or K m,(decreased binding affinity) for a coenzyme, resulting …

Methionine synthase reductase (MSR) catalyzes the conversion of the inactive form of
human methionine synthase to the active state of the enzyme. This reaction is of paramount …

Hydrogen sulfide (H2S) has emerged as an important signaling molecule with beneficial
effects on various cellular processes affecting, for example, cardiovascular and neurological …

This review gives an overview of clinical characteristics, treatment and outcome of nutritional
and acquired cobalamin (Cbl; synonym: vitamin B12) deficiencies, inborn errors of Cbl …

Hyperhomocyst (e) inemia is a metabolic derangement that is linked to the distribution of
folate pools, which provide one-carbon units for biosynthesis of purines and thymidylate and …

Background—Homocysteine is known to be an independent risk factor for congenital heart
disease (CHD). Methionine synthase reductase (MTRR) is essential for the adequate …

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

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

Megaloblastic anaemias (MA) are frequently associated with haemolysis. The pathogenesis
of these finding is not clear, but it is thought to depend on the greater destruction of …