Lipid storage myopathy in multiple acyl-CoA dehydrogenase deficiency: An adult case

T. Mongini, C. Doriguzzi, L. Palmucci, A. De Francesco, L. Bet, L. Manfredi, C. Ponzetto, N. Bresolin

Research output: Contribution to journalArticlepeer-review

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 c 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.

Original languageEnglish
Pages (from-to)170-176
Number of pages7
JournalEuropean Neurology
Volume32
Issue number3
DOIs
Publication statusPublished - 1992

Keywords

  • Glutaric aciduria type II
  • Lipid storage myopathy
  • Mitochondrial DNA analysis
  • Muscle cell cultures
  • β-Oxidation defect

ASJC Scopus subject areas

  • Clinical Neurology
  • Neurology

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