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 journalArticle

18 Citations (Scopus)

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

Fingerprint

Multiple Acyl Coenzyme A Dehydrogenase Deficiency
Muscles
Carnitine
Electron Transport Complex IV
Lipids
Butyryl-CoA Dehydrogenase
Succinate Cytochrome c Oxidoreductase
Acyl-CoA Dehydrogenase
Muscle Mitochondrion
Biopsy
Muscle Weakness
Transferases
Cytochromes c
Mitochondrial DNA
Nonesterified Fatty Acids
Muscle Cells
Nausea
Vomiting
Cell Culture Techniques
Myopathy with Abnormal Lipid Metabolism

Keywords

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

ASJC Scopus subject areas

  • Clinical Neurology
  • Neurology

Cite this

Mongini, T., Doriguzzi, C., Palmucci, L., De Francesco, A., Bet, L., Manfredi, L., ... Bresolin, N. (1992). Lipid storage myopathy in multiple acyl-CoA dehydrogenase deficiency: An adult case. European Neurology, 32(3), 170-176. https://doi.org/10.1159/000116817

Lipid storage myopathy in multiple acyl-CoA dehydrogenase deficiency : An adult case. / Mongini, T.; Doriguzzi, C.; Palmucci, L.; De Francesco, A.; Bet, L.; Manfredi, L.; Ponzetto, C.; Bresolin, N.

In: European Neurology, Vol. 32, No. 3, 1992, p. 170-176.

Research output: Contribution to journalArticle

Mongini, T, Doriguzzi, C, Palmucci, L, De Francesco, A, Bet, L, Manfredi, L, Ponzetto, C & Bresolin, N 1992, 'Lipid storage myopathy in multiple acyl-CoA dehydrogenase deficiency: An adult case', European Neurology, vol. 32, no. 3, pp. 170-176. https://doi.org/10.1159/000116817
Mongini T, Doriguzzi C, Palmucci L, De Francesco A, Bet L, Manfredi L et al. Lipid storage myopathy in multiple acyl-CoA dehydrogenase deficiency: An adult case. European Neurology. 1992;32(3):170-176. https://doi.org/10.1159/000116817
Mongini, T. ; Doriguzzi, C. ; Palmucci, L. ; De Francesco, A. ; Bet, L. ; Manfredi, L. ; Ponzetto, C. ; Bresolin, N. / Lipid storage myopathy in multiple acyl-CoA dehydrogenase deficiency : An adult case. In: European Neurology. 1992 ; Vol. 32, No. 3. pp. 170-176.
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