[Alterations of mitochondria in metabolic diseases. Carnitine deficiency, carnitine palmitoyltransferase deficiency and beta oxidation].
Recently a number of defects of fatty acid transport and beta-oxidation have been described. Primary carnitine deficiency presents itself as muscle carnitine deficiency, systemic carnitine deficiency or a cardiomyopathic subtype. Another abnormality of fatty acid transport is due to inner carnitine palmitoyl transferase deficiency, usually associated with a myoglobinuric phenotype. Long chain, medium and short chain acyl-CoA-dehydrogenase defects are usually associated to Reye's syndrome, encephalopathy, organic aciduria and secondary carnitine deficiency.
Angelini
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D000217:Acyltransferases / Q000378:metabolism*; D002331:Carnitine / Q000172:deficiency*; D002334:Carnitine O-Palmitoyltransferase / Q000378:metabolism*; D005227:Fatty Acids / Q000378:metabolism; D006801:Humans; D008659:Metabolic Diseases / Q000378:metabolism* / Q000473:pathology; D009132:Muscles / Q000201:enzymology* / Q000473:pathology; D012202:Reye Syndrome / Q000378:metabolism*
D005227:Fatty Acids; D000217:Acyltransferases; D002334:Carnitine O-Palmitoyltransferase; D002331:Carnitine
Alterazioni mitocondriali nelle malattie dismetaboliche. Difetti di carnitina, carnitina palmitiltransferasi e beta ossidazione.