[Mitochondrial myopathies and encephalomyopathies. Neuromuscular and central nervous system diseases caused by defects in mitochondrial oxidative metabolism].
In this review the clinical data and biochemical findings of disorders of oxidative metabolism in the mitochondria are summarized. Defects in pyruvate metabolism, the citric acid circle, the respiratory chain and less well defined disorders of energy transfer are discussed.
D001921:Brain / Q000201:enzymology; D001928:Brain Diseases, Metabolic / Q000201:enzymology*; D002332:Carnitine O-Acetyltransferase / Q000172:deficiency; D002648:Child; D002952:Citric Acid Cycle; D003580:Cytochromes / Q000172:deficiency; D004734:Energy Metabolism; D004798:Enzymes / Q000172:deficiency*; D006801:Humans; D007773:Lactates / Q000097:blood; D019344:Lactic Acid; D008931:Mitochondria, Muscle / Q000201:enzymology*; D009132:Muscles / Q000201:enzymology; D009243:NAD / Q000378:metabolism; D009468:Neuromuscular Diseases / Q000201:enzymology*; D015325:Pyruvate Dehydrogenase Complex Deficiency Disease; D011773:Pyruvates / Q000378:metabolism; D019289:Pyruvic Acid; D013386:Succinates / Q000378:metabolism; D019802:Succinic Acid
D003580:Cytochromes; D004798:Enzymes; D007773:Lactates; D011773:Pyruvates; D013386:Succinates; D009243:NAD; D019344:Lactic Acid; D019289:Pyruvic Acid; D019802:Succinic Acid; D002332:Carnitine O-Acetyltransferase
Mitochondriale Myopathien und Enzephalomyopathien. Neuromuskuläre und zentralnervöse Erkrankungen infolge von Defekten des mitochondrialen oxydativen Stoffwechsels.