Problems in the congenital lactic acidoses.

J V Leonard

doi:10.1002/9780470720691.ch19

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Problems in the congenital lactic acidoses.

J V Leonard

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Abstract

The congenital lactic acidosis form a heterogeneous group of inborn errors that includes defects of gluconeogenesis, the pyruvate dehydrogenase complex, the Krebs cycle and the respiratory chain. These disorders are not easily classified because of the absence of specific metabolites, difficulties in providing suitable tissue specimens and technical problems with the enzyme assays. The commonest causes of lactic acidosis due to inborn errors are the deficiencies of glucose-6-phosphatase and fructose bisphosphatase, which present with hypoglycaemia, lactic acidosis and hepatomegaly. Pyruvate carboxylase and phosphoenolpyruvate deficiencies vary considerably in both clinical expression and biochemical findings. Neurological symptoms predominate in defects of the pyruvate dehydrogenase complex, and some cases of the spinocerebellar ataxias may be due to partial defects of the pyruvate and 2-oxoglutarate dehydrogenase complexes.

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Acidosis Child Child, Preschool Citric Acid Cycle Female Fructose-1,6-Diphosphatase Deficiency Gluconeogenesis Glycogen Storage Disease Type I Humans Lactates Male Oxidation-Reduction Phosphoenolpyruvate Carboxykinase (GTP)Pyruvate Dehydrogenase Complex Deficiency Disease Pyruvates Pyruvic Acid Journal Article

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J V Leonard. 1982. Problems in the congenital lactic acidoses.. https://doi.org/10.1002/9780470720691.ch19

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