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doi: 10.1016/0009-8981(78)90102-x.
A new variant of methylmalonic acidemia-defective coenzyme-apoenzyme binding in cultured fibroblasts
- PMID: 25730
- DOI: 10.1016/0009-8981(78)90102-x
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Case Reports
A new variant of methylmalonic acidemia-defective coenzyme-apoenzyme binding in cultured fibroblasts
Clin Chim Acta.
.
Abstract
Cultured fibroblasts from a patient with methylmalonic acidemia, clinically responsive to vitamin B-12, were studied in vitro. Kinetic analysis revealed abnormal binding of the coenzyme, 5'-deoxyadenosylcobalamin, for its methylmalonyl-CoA carbonylmutase apoenzyme, i.e., KM of 3.8 X 10(-5) M versus control KM of 1.5 X 10(-8) M. These data are interpreted as indicating a structural defect of the apoenzyme at the coenzyme binding site, and represent another variant of this genetic disorder.
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