title: Lipid storage myopathy in multiple acyl-CoA dehydrogenase deficiency: an adult case.
abstract: A 25-year-old woman had been complaining of episodes of muscle weakness, nausea and vomiting since the age of 10. Muscle biopsy showed free fatty acid accumulation and mitochondrial abnormalities. Mitochondrial DNA appeared to be normal at Southern analysis. Biochemical investigations demonstrated: glutaric aciduria type II, decreased levels of carnitine in liver and values at the lower level of normal in muscle, increased muscle carnitine palmitoyl transferase activity, partial cytochrome c oxidase and succinate cytochrome reductase deficiency in muscle homogenate. In isolated muscle mitochondria, cytochromes aa3, b and c were partially decreased, butyryl-CoA dehydrogenase and palmitoyl-CoA dehydrogenase activities were 10 and 54% of the normal, respectively. Muscle cell cultures did not show lipid storage. Low-lipid diet reduced critical episodes and lipid storage in muscle biopsy.
authors.affiliation: Centro per le Malattie Neuromuscolari Paolo Peirolo, Università di Torino, Italia.
authors.forename: T
authors.initials: T
authors.lastname: Mongini
authors.forename: C
authors.initials: C
authors.lastname: Doriguzzi
authors.forename: L
authors.initials: L
authors.lastname: Palmucci
authors.forename: A
authors.initials: A
authors.lastname: De Francesco
authors.forename: L
authors.initials: L
authors.lastname: Bet
authors.forename: L
authors.initials: L
authors.lastname: Manfredi
authors.forename: C
authors.initials: C
authors.lastname: Ponzetto
authors.forename: N
authors.initials: N
authors.lastname: Bresolin
mesh_terms: D044944:Acyl-CoA Dehydrogenases / Q000172:deficiency*; D000328:Adult; D001706:Biopsy; D003402:Creatine Kinase / Q000097:blood*; D005260:Female; D005977:Glutarates / Q000652:urine*; D006801:Humans; D050356:Lipid Metabolism; D008052:Lipid Metabolism, Inborn Errors / Q000175:diagnosis* / Q000201:enzymology; D008099:Liver / Q000473:pathology; D008854:Microscopy, Electron; D008931:Mitochondria, Muscle / Q000648:ultrastructure; D009123:Muscle Hypotonia / Q000175:diagnosis / Q000201:enzymology; D009132:Muscles / Q000473:pathology; D009460:Neurologic Examination; D009468:Neuromuscular Diseases / Q000175:diagnosis* / Q000201:enzymology
chemical_list: D005977:Glutarates; D044944:Acyl-CoA Dehydrogenases; D003402:Creatine Kinase; C035736:glutaric acid