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Problems in the congenital lactic acidoses.

Leonard, JV; (1982) Problems in the congenital lactic acidoses. Ciba Found Symp , 87 pp. 340-356.

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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.

Type: Article
Title: Problems in the congenital lactic acidoses.
Location: Netherlands
Keywords: 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
UCL classification: UCL > Provost and Vice Provost Offices
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Pop Health Sciences > UCL GOS Institute of Child Health
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Pop Health Sciences > UCL GOS Institute of Child Health > ICH Infect, Imm, Infla. and Physio Med
URI: http://discovery.ucl.ac.uk/id/eprint/1371427
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