Methodology in evaluating pyruvate oxidation.
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Humans↗
Biomedical subjects
Publications and source records attributed to P Kark.
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Two unrelated patients with Friedreich ataxia were deficient in the activity of the enzyme lipoamide dehydrogenase (LAD). The enzymes from the patients' platelets differed significantly from controls in activity, in KM for lipoamide, and in KM for NADH. The data are consistent with a structural mutation of the gene coding for LAD.