Clinical correlations of partial deficiency of lipoamide dehydrogenase.
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.
D008058:Dihydrolipoamide Dehydrogenase / Q000172:deficiency* / Q000378:metabolism; D005621:Friedreich Ataxia / Q000175:diagnosis / Q000201:enzymology* / Q000235:genetics; D005838:Genotype; D006801:Humans; D010641:Phenotype
D008058:Dihydrolipoamide Dehydrogenase