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Deficiency of the pyruvate dehydrogenase complex and of mitochondrial fatty acid oxidation. 1991

L A Bindoff, and M A Birch-Machin, and S Jackson, and R Singh Kler, and K Bartlett, and D M Turnbull
Division of Clinical Neuroscience, Medical School, Newcastle upon Tyne, England.

Defects of the pyruvate dehydrogenase complex and of mitochondrial fatty acid oxidation are important causes of disease. Defects of pyruvate dehydrogenase may present in early childhood with severe CNS changes or, as lactic acidosis or later with ataxia. Defects of fatty acid oxidation may present with hypoglycaemic coma, myopathy, liver disease with encephalopathy, cardiomyopathy or sudden infant death. The investigation of both these groups of disorders is difficult and depends upon a combination of biochemical and molecular biology techniques.

UI MeSH Term Description Entries
D008052 Lipid Metabolism, Inborn Errors Errors in the metabolism of LIPIDS resulting from inborn genetic MUTATIONS that are heritable. Lipid Metabolism, Inborn Error
D008928 Mitochondria Semiautonomous, self-reproducing organelles that occur in the cytoplasm of all cells of most, but not all, eukaryotes. Each mitochondrion is surrounded by a double limiting membrane. The inner membrane is highly invaginated, and its projections are called cristae. Mitochondria are the sites of the reactions of oxidative phosphorylation, which result in the formation of ATP. They contain distinctive RIBOSOMES, transfer RNAs (RNA, TRANSFER); AMINO ACYL T RNA SYNTHETASES; and elongation and termination factors. Mitochondria depend upon genes within the nucleus of the cells in which they reside for many essential messenger RNAs (RNA, MESSENGER). Mitochondria are believed to have arisen from aerobic bacteria that established a symbiotic relationship with primitive protoeukaryotes. (King & Stansfield, A Dictionary of Genetics, 4th ed) Mitochondrial Contraction,Mitochondrion,Contraction, Mitochondrial,Contractions, Mitochondrial,Mitochondrial Contractions
D010084 Oxidation-Reduction A chemical reaction in which an electron is transferred from one molecule to another. The electron-donating molecule is the reducing agent or reductant; the electron-accepting molecule is the oxidizing agent or oxidant. Reducing and oxidizing agents function as conjugate reductant-oxidant pairs or redox pairs (Lehninger, Principles of Biochemistry, 1982, p471). Redox,Oxidation Reduction
D005227 Fatty Acids Organic, monobasic acids derived from hydrocarbons by the equivalent of oxidation of a methyl group to an alcohol, aldehyde, and then acid. Fatty acids are saturated and unsaturated (FATTY ACIDS, UNSATURATED). (Grant & Hackh's Chemical Dictionary, 5th ed) Aliphatic Acid,Esterified Fatty Acid,Fatty Acid,Fatty Acids, Esterified,Fatty Acids, Saturated,Saturated Fatty Acid,Aliphatic Acids,Acid, Aliphatic,Acid, Esterified Fatty,Acid, Saturated Fatty,Esterified Fatty Acids,Fatty Acid, Esterified,Fatty Acid, Saturated,Saturated Fatty Acids
D006801 Humans Members of the species Homo sapiens. Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man
D015325 Pyruvate Dehydrogenase Complex Deficiency Disease An inherited metabolic disorder caused by deficient enzyme activity in the PYRUVATE DEHYDROGENASE COMPLEX, resulting in deficiency of acetyl CoA and reduced synthesis of acetylcholine. Two clinical forms are recognized: neonatal and juvenile. The neonatal form is a relatively common cause of lactic acidosis in the first weeks of life and may also feature an erythematous rash. The juvenile form presents with lactic acidosis, alopecia, intermittent ATAXIA; SEIZURES; and an erythematous rash. (From J Inherit Metab Dis 1996;19(4):452-62) Autosomal recessive and X-linked forms are caused by mutations in the genes for the three different enzyme components of this multisubunit pyruvate dehydrogenase complex. One of the mutations at Xp22.2-p22.1 in the gene for the E1 alpha component of the complex leads to LEIGH DISEASE. Ataxia with Lactic Acidosis, Type I,Lactic Acidosis with Ataxia, Type I,Ataxia with Lactic Acidosis,Ataxia with Lactic Acidosis I,Ataxia, Intermittent, with Abnormal Pyruvate Metabolism,Ataxia, Intermittent, with Pyruvate Dehydrogenase, or Decarboxylase, Deficiency,Intermittent Ataxia with Pyruvate Dehydrogenase Deficiency,Juvenile Pyruvate Dehydrogenase Complex Deficiency Disease,Neonatal Pyruvate Dehydrogenase Complex Deficiency Disease,PDH Deficiency,PDHC Deficiency,PDHC Deficiency Disease,Pyruvate Decarboxylase Deficiency,Pyruvate Dehydrogenase Complex Deficiency,Pyruvate Dehydrogenase Complex Deficiency Disease, Juvenile,Pyruvate Dehydrogenase Complex Deficiency Disease, Neonatal,Pyruvate Dehydrogenase Deficiency,Type I Ataxia with Lactic Acidosis,Deficiency, PDH,Deficiency, PDHC,Deficiency, Pyruvate Decarboxylase,Deficiency, Pyruvate Dehydrogenase

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