title: Abnormal activation of pyruvate dehydrogenase in Leigh disease fibroblasts.
abstract: Incubation with dichloroacetate increased activity of the pyruvate dehydrogenase complex (PDHC) in disrupted fibroblasts from controls but not from two patients with autopsy-proved Leigh disease. These results are consistent with a genetically determined aberration of the regulation of PDHC in this disorder, although further studies are necessary to define the aberration.
mesh_terms: D001927:Brain Diseases / Q000201:enzymology*; D005347:Fibroblasts / Q000201:enzymology; D006801:Humans; D011768:Pyruvate Dehydrogenase Complex / Q000378:metabolism*; D012867:Skin; D013118:Spinal Cord Diseases / Q000201:enzymology*
chemical_list: D011768:Pyruvate Dehydrogenase Complex