Normal activities of hepatic pyruvate dehydrogenase and pyruvate carboxylase in Leigh's syndrome.
A case of Leigh's syndrome (subacute necrotizing encephalomyelopathy, SNE), proven by autopsy, was reported. The persistent elevation of pyruvate and lactate in blood and hyperalanemia suggested an impairment of pyruvate oxidation, but the enzyme activities of pyruvate dehydrogenase (PDH) and pyruvate carboxylase (PC) in liver tissues of the patient revealed normal. It is postulated that Leigh's syndrome and both enzyme deficiencies are distinct entities.
D001921:Brain / Q000473:pathology; D001933:Brain Stem; D002493:Central Nervous System Diseases / Q000473:pathology; D004678:Encephalomalacia / Q000201:enzymology*; D006801:Humans; D007223:Infant; D008607:Intellectual Disability / Q000201:enzymology; D007773:Lactates / Q000097:blood; D019344:Lactic Acid; D008099:Liver / Q000201:enzymology*; D008297:Male; D011596:Psychomotor Disorders / Q000201:enzymology; D011766:Pyruvate Carboxylase / Q000378:metabolism*; D011768:Pyruvate Dehydrogenase Complex / Q000378:metabolism*; D011773:Pyruvates / Q000097:blood; D019289:Pyruvic Acid; D013577:Syndrome
D007773:Lactates; D011768:Pyruvate Dehydrogenase Complex; D011773:Pyruvates; D019344:Lactic Acid; D019289:Pyruvic Acid; D011766:Pyruvate Carboxylase