Optimizing the dose of hydroxocobalamin in cobalamin C (cblC) defect. - Abstract - Europe
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Derivatives of vitamin B 12 (cobalamin) are essential cofactors for enzymes required in
intermediary metabolism. Defects in cobalamin metabolism lead to disorders characterized …

Methylmalonic aciduria and homocystinuria, cblC type, is a rare disorder of intracellular
vitamin B12 (cobalamin [Cbl]) metabolism caused by mutations in the MMACHC gene …

MMACHC and MMADHC are the genes responsible for cblC and cblD defects of vitamin
B12 metabolism, respectively. Patients with cblC and cblD defects present with various …

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 …

Disorders of intracellular cobalamin metabolism have a variable phenotype and age of
onset that are influenced by the severity and location within the pathway of the defect. The …

Methylmalonic aciduria and homocystinuria, cobalamin C (cblC) type, is the most frequent
inborn error of vitamin B12metabolism. The clinical phenotype includes systemic symptoms …

Cobalamin C (cblC) defects result in decreased activity of both methylmalonyl-CoA mutase
and N5-methyltetrahydrofolate: homocysteine methyltransferase (methionine synthase), with …

Methylmalonic aciduria and homocystinuria type C protein (MMACHC) is required by the
body to metabolize cobalamin (Cbl). Due to its complex structure and cofactor forms, Cbl …

Vitamin B12 (cobalamin) is an essential cofactor of two enzymes, methionine synthase and
methylmalonyl-CoA mutase. The conversion of the vitamin to its coenzymes requires a …