title: Clinical correlations of partial deficiency of lipoamide dehydrogenase.
abstract: Reduced activities of lipoamide dehydrogenase (LAD) relative to cytochrome oxidase have been found in 12 or 26 patients with inherited ataxias. One of the 12 patients had adult-onset ataxia plus ragged-red muscle fibers. The other 11 had Friedreich syndrome or early-onset variants of this, as did 6 patients with normal enzyme activity. However, the 11 patients with reduced enzyme activity were clinically more homogeneous than the 6 with normal activity.
mesh_terms: D008058:Dihydrolipoamide Dehydrogenase / Q000172:deficiency* / Q000378:metabolism; D005621:Friedreich Ataxia / Q000175:diagnosis / Q000201:enzymology* / Q000235:genetics; D005838:Genotype; D006801:Humans; D010641:Phenotype
chemical_list: D008058:Dihydrolipoamide Dehydrogenase