Background Vitamin B12 (cobalamin) is an essential cofactor in several metabolic pathways.
Intracellular conversion of cobalamin to its two coenzymes, adenosylcobalamin in …

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 …

Abstract Cobalamin C (Cbl-C) defect is the most common inborn cobalamin metabolism
error; it causes impaired conversion of dietary vitamin B12 into its two metabolically active …

Patients with the cblC vitamin B12 (cobalamin, cbl) disorder are defective in the intracellular
synthesis of adenosylcobalamin and methylcobalamin and have combined homocystinuria …

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 associated with homocystinuria
and methylmalonic aciduria, either alone or in combination. A number of these disorders …

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

OBJECTIVES: To describe 3 patients with the cblD disorder, a rare inborn error of cobalamin
metabolism caused by mutations in the MMADHC gene that can result in isolated …

Methylmalonic aciduria and homocystinuria, cblC type (OMIM 277400), is the most common
inborn error of vitamin B12 (cobalamin) metabolism, with about 250 known cases. Affected …

Cobalamins are essential biological compounds structurally related to haemoglobin and the
cytochromes. Although the basic cobalamin molecule is only synthesized by micro …