Metabolic abnormalities in cobalamin (vitamin B 12 ) and folate deficiency
- 1 November 1993
- journal article
- review article
- Published by Wiley in The FASEB Journal
- Vol. 7 (14) , 1344-1353
- https://doi.org/10.1096/fasebj.7.14.7901104
Abstract
Mammalian cells contain two Cbl-dependent enzymes, L-methylmalonyl-CoA mutase and methionine synthase. The former requires adenosyl-Cbl and catalyzes the conversion of L-methylmalonyl-CoA to succinyl-CoA. The latter requires CH3-Cbl and catalyzes the conversion of 5-CH3-tetrahydrofolate and homocysteine to tetrahydrofolate and methionine, respectively. Biochemical abnormalities related to a decrease in the activity of methionine synthase are thought to be responsible for the indistinguishable hematologic abnormalities seen in both Cbl and folate deficiency. The biochemical basis for the neuropsychiatric abnormalities seen in Cbl deficiency, but not in folate deficiency, is not known although hypotheses have been proposed that implicate one or the other of the two Cbl-dependent enzymes. Recent studies have shown that levels of serum methylmalonic acid, 2-methylcitric acids I and II, total homocysteine, and cystathionine are elevated in most patients with Cbl deficiency and that total homocysteine, cystathi...Keywords
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