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 …

Vitamin Br2 (cobalamin, Cbl) is required as a coenzyme for two reactions in mammalian
cells. One of these permits the efficient utilization of folate and the synthesis of methionine …

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

This chapter discusses disorders of folate metabolism and those of cobalamin metabolism,
and summarizes advances in the prenatal diagnosis of these disorders. The genes for all of …

(Figure 27.1)[1–18] with consequent decreased activity of Mut, the enzyme which is deficient
in classical MMA (see Chapter 16). The subtypes of MMA are based on complemen-tation …

Cobalamin deficiency in the newborn usually results from cobalamin deficiency in the
mother. Megaloblastic anaemia, pancytopenia and failure to thrive can be present …

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

A male infant with methyl‐B12 deficiency (cblE) presented at age 6 weeks with lethargy,
staring spells, and vomiting. He later became hypotonic and unrespon sive to stimuli and …

Congenital defects of cobalamin (Cbl) metabolism have been identified at each of its steps:
absorption transport, and intracellular utilization. These can be summarized as follows …

Cobalamin (vitamin B 12) is required for activity of the enzymes methylmalonyl-CoA mutase
and methionine synthase in human cells. Inborn errors affecting cobalamin uptake or …