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) …

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 …

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 …

Cobalamin (Cbl), or vitamin B 12, is required for activity of the mitochondrial enzyme,
methylmalonyl-CoA mutase, and the cytoplasmic enzyme, methionine synthase. A number …

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

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 …

ABSTRACT Vitamin B12 (cobalamin, Cbl) cofactors adenosylcobalamin (AdoCbl) and
methylcobalamin (MeCbl) are required for the activity of the enzymes methylmalonyl‐CoA …

Three distinct classes of human mutations (cbl A, cbl B, and cbl C) cause defective synthesis
of cobalamin (Cbl; vitamin B12) coenzymes. Cultured fibroblasts from that unique class (cbl …

A neonate, who was found to have an elevated C3/C2 ratio and minimally elevated
propionylcarnitine on newborn screening, was subsequently identified as having the rare …