Patients with inherited disorders affecting cobalamin (Cbl) absorption or metabolism show
elevations of homocysteine or methylmalonic acid, either alone or in combination. For those …

Deficient activity of an enzyme can result from a defect in the conversion of the vitamin to a
co-enzyme as well from an abnormal apo-enzyme or disturbed binding of co-enzyme to …

Patients with disorders of intracellular Cbl metabolism typically have serum Cbl levels within
the reference range, although levels may be reduced in the cblF and cblJ disorders …

This review highlights the features of cobalamin and folate deficiency and insufficiency that
are particular to children. Maternal deficiency of cobalamin and insufficiency or deficiency of …

Folate and cobalamin are necessary for early brain development and function. Deficiency of
folate or cobalamin during pregnancy can cause severe malformation in the central nervous …

Derivatives of cobalamin (vitamin B12) are required for activity of two enzymes in humans.
Adenosylcobalamin is required for activity of mitochondrial methylmalonylCoA mutase and …

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 …

Inborn errors of vitamin B12 (cobalamin) metabolism are associated with homocystinuria
and methylmalonic aciduria, either alone or in combination. A number of these disorders …

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

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