The inability to metabolize pyruvate, causing lactic acidosis and various CNS pathologies.
Pyruvate is an important substrate in carbohydrate metabolism. Pyruvate metabolism disorders are among the carbohydrate metabolism disorders.
The inability to metabolize pyruvate, causing lactic acidosis and various CNS pathologies. Pyruvate is an important substrate in carbohydrate metabolism. Pyruvate metabolism disorders are among the carbohydrate metabolism disorders. See also approach in a patient with suspected congenital metabolic disorder Pyruvatdehydrogenasemangel The pyruvate dehydrogenase is a multi-enzyme complex is responsible in the Krebs cycle for the formation of acetyl-CoA from pyruvate. A deficiency leads to an increase of pyruvate and in turn, to increase the lactate acid level. Inheritance occurs as an autosomal recessive. The clinical manifestations vary in severity, but include lactic acidosis, CNS malformations and other postnatal changes, including cystic lesions in the cortex, brain stem and basal ganglia, ataxia, and psychomotor retardation. The diagnosis of Pyruvatdehydrogenasemangels is confirmed by an enzyme analysis in the skin fibroblasts, a DNA analysis, or both. (See also check on suspicion of inherited metabolic disorders.) There is no effective treatment for the disorder of a Pyruvatdehydrogenasemangels. A low-carbohydrate or ketogenic diet and an additional dose of thiamine were but useful in some patients. Pyruvatcarboxylasemangel The pyruvate carboxylase is a key enzyme for gluconeogenesis from pyruvate and alanine that are generated in the muscle. The inheritance of both forms is carried out in an autosomal recessive, and both lead to lactic acidosis. A primary or secondary deficiency can be caused by a lack of Holocarboxylasesynthetase, biotin or biotinidase. The primary deficiency has an incidence of less than 1 in 250,000 births, but may be higher in certain strains of Native Americans (Native Americans). Psychomotor retardation with seizures and spasticity are the main findings. Laboratory abnormalities include hyperammonemia, lactic acidosis, ketoacidosis, increased lysine, citrulline, alanine and Prolinspiegel and an increased secretion of ?-ketoglutarate. A secondary deficiency causes growth retardation, seizures and other organic Azidurien similar clinical findings. The diagnosis is confirmed by a Pyruvatcarboxylasemangels enzyme analysis of cultured skin fibroblasts or DNA analysis. There is no effective treatment of a Pyruvatdehydrogenasemangels, but individual patient with a primary deficiency and all with a secondary deficiency should additionally obtain biotin (5-20 mg p.o. once daily).