Disorders of pyruvate metabolism
- 1 March 1979
- journal article
- research article
- Published by Wolters Kluwer Health in Neurology
- Vol. 29 (3) , 280
- https://doi.org/10.1212/wnl.29.3.280
Abstract
The biochemical abnormalities of 16 disorders associated with pyruvate metabolism are discussed. The pathopneumonic symptoms of human hereditary pyruvate decarboxylase complex and pyruvate carboxylase enzyme deficiencies are presented, including periventricular hemorrhage, subacute necrotizing encephalomyelopathy, ataxia, spinocerebellar degeneration, infantile lactic acidosis, motion retardation, seizures, hypoglycemia and visual failure. Normal pyruvate metabolism is reviewed.This publication has 3 references indexed in Scilit:
- Thiamine dependency in a patient with congenital lacticacidaemia due to pyruvate dehydrogenase deficiencyInflammation Research, 1977
- Ketonic Diet in the Management of Pyruvate Dehydrogenase DeficiencyPediatrics, 1976
- Sensitivity to Carbohydrate in a Patient with Familial Intermittent Lactic Acidosis and Pyruvate Dehydrogenase DeficiencyPediatric Research, 1976