Vitamin B12 or cobalamin (Cbl) metabolism can be affected by genetic defects leading to
defective activity of either methylmalonyl-CoA mutase or methionine synthase or both …

Abstract Cobalamin (Cbl, B 12) is an essential micronutrient required to fulfill the enzymatic
reactions of cytosolic methylcobalamin-dependent methionine synthase and mitochondrial …

The cblD defect of intracellular vitamin B12 metabolism can lead to isolated methylmalonic
aciduria (cblD-MMA) or homocystinuria (cblD-HC), or combined methylmalonic aciduria and …

Background Over the last forty years, our laboratory has accumulated a collection of over
1000 cultured fibroblast lines derived from patients from around the world referred with signs …

Background The high variability in clinical and metabolic presentations of inborn errors of
cobalamin (cbl) metabolism (IECM), such as the cblC/epicblC types with combined deficits in …

Inborn errors of vitamin B12 (cobalamin, Cbl) metabolism are autosomal recessive disorders
and have been classified into nine distinct complementation classes (cblA-cblH and mut) …

Intracellular cobalamin is converted to adenosylcobalamin, coenzyme for methylmalonyl-
CoA mutase and to methylcobalamin, coenzyme for methionine synthase, in an incompletely …

Inborn errors of vitamin B12 (cobalamin) metabolism are characterized by decreased
production of active cobalamin cofactors and subsequent deficiencies in the activities of …

Thiolatocobalamins are a class of cobalamins comprised of naturally occurring and synthetic
ligands. Glutathionylcobalamin (GSCbl) occurs naturally in mammalian cells, and also as an …

Derivatives of vitamin B12 (cobalamin, Cbl) are required for activity of the mitochondrial
enzyme l-methylmalonyl-CoA mutase and the cytoplasmic enzyme methionine synthase in …