Pyruvate dehydrogenase deficiency in spinocerebellar degenerations.
To study the incidence of abnormalities of the pyruvate (PDH) or ketoglutarate (KGDH) dehydrogenase complexes in patients with spinocerebellar degenerations, we measured the activities of PDH and KGDH in platelet-enriched preparations from the blood of 14 patients. Low PDH was found in 6 of the 14 patients; low KGDH was found in 2 of the 6. PDH-normal and PDH-abnormal patients could not be distinguished by clinical criteria. These results extend previous studies, which suggested abnormalities of pyruvate oxidation in patients with hereditary ataxias. The data imply that deficient activity of the PDH complex may be associated with spinocerebellar degenerations, and that the clinical phenotypes of the inherited ataxias can be associated with several genotypes.
D000293:Adolescent; D000328:Adult; D000368:Aged; D001259:Ataxia / Q000201:enzymology* / Q000209:etiology; D002524:Cerebellar Ataxia / Q000201:enzymology*; D002648:Child; D005260:Female; D005621:Friedreich Ataxia / Q000201:enzymology; D006801:Humans; D007655:Ketoglutarate Dehydrogenase Complex / Q000172:deficiency / Q000378:metabolism; D008297:Male; D011768:Pyruvate Dehydrogenase Complex / Q000378:metabolism; D015325:Pyruvate Dehydrogenase Complex Deficiency Disease; D013118:Spinal Cord Diseases / Q000201:enzymology*
D011768:Pyruvate Dehydrogenase Complex; D007655:Ketoglutarate Dehydrogenase Complex