Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: EC:6.4.1.1 (pyruvate carboxylase)
 1,516 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

The authors describe an anatomical familial case of progressive infantile cerebral poliodystrophy (Alpers disease), in which the study of enzyme kinetics of hepatic pyruvate carboxylase revealed an abnormal graph reflecting a loss of activity of the enzyme with low concentrations of substrate, This is a new feature in the literature on Alpers disease, and possibly indicates one of the pathogenic mechanisms responsible in this disorder which remains mysterious, although its pathology has been clearly described.
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PMID:[Alpers' infantile cerebral poliodystrophy. A case with abnormal hepatic pyruvate carboxylase]. 61 2

We will present 8 children with progressive infantile or juvenile poliodystrophy (Alpers' disease), associated with a defect in pyruvate metabolism. Laboratory studies showed elevated levels of lactate in CSF and, in 4 children, elevated levels in serum. Histopathologic studies revealed lipid storage in liver and/or muscle tissue, sometimes myopathy with abnormal mitochondria and slight axonal degeneration in the peripheral nerve. Autopsy showed the characteristics of progressive poliodystrophy with degeneration and loss of neurons. Electron microscopy of cerebral cortex showed no mitochondrial abnormalities in neurons or astroglia. Biochemical studies in muscle and/or liver and/or cerebral tissue showed different deficiencies in pyruvate metabolism: in the pyruvate dehydrogenase complex, in the second part of the citric acid cycle (after the oxoglutarate dehydrogenase complex), in the NADH oxidation, in cytochrome aa3 and in pyruvate carboxylase.
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PMID:Defects in citric acid cycle and the electron transport chain in progressive poliodystrophy. 643 1