The catalytic properties of many enzymes depend on the participation of vitamins as
obligatory cofactors. Vitamin B 12 (cobalamin) and folic acid (folate) deficiencies in infants …

Methylmalonic acidaemia and homocystinuria (MMA/HC) is a very rare inborn error of
cellular metabolism of cobalamin (Cbl), that results in functional defects of both …

AN increasing variety of hereditary disorders of intracellular cobalamin metabolism, usually
first detected because of the presence of methylmalonic aciduria (cblA, cblB, and cblF …

BACKGROUND: Since 1975 cells lines from patients with suspected inborn errors of vitamin
B12 metabolism have been referred to our laboratory because of elevations of …

Inborn errors of intracellular cobalamin (Cbl) metabolism are rare disorders classified on the
basis of complementation analysis and other biochemical findings and fibroblasts assays …

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 …

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 …

Disorders of cobalamin and folate intracellular metabolism that result in defective
remethylation of homocysteine to methionine are associated with leukodystrophy, whereas …

All of vitamin B12 in nature is of microbial origin. Cobalamin, as vitamin B12 should correctly
be termed, is a large polar molecule that must be bound to specialized transport proteins to …

Derivatives of folic acid are involved in transfer of one-carbon units in cellular metabolism,
playing a role in synthesis of purines and thymidylate and in the remethylation of …