Fulminant lipid storage myopathy due to multiple acyl-coenzyme a dehydrogenase deficiency

Muscle Nerve. 2015 Aug;52(2):289-93. doi: 10.1002/mus.24552. Epub 2015 Feb 11.


Introduction: The lipid storage myopathies, primary carnitine deficiency, neutral lipid storage disease, and multiple acyl coenzyme A dehydrogenase deficiency (MADD), are progressive disorders that cause permanent weakness. These disorders of fatty acid metabolism and intracellular triglyceride degradation cause marked fat deposition and damage to muscle cells.

Methods: We describe a rapidly progressive myopathy in a previously healthy 33-year-old woman. Over 4 months, she developed a proximal and axial myopathy associated with diffuse myalgia and dysphagia, ultimately leading to respiratory failure and death.

Results: Muscle biopsy showed massive accumulation of lipid. Plasma acylcarnitine and urine organic acid analysis was consistent with MADD. This was confirmed by molecular genetic testing, which revealed 2 pathogenic mutations in the ETFDH gene.

Conclusions: This report illustrates a late-onset case of MADD and reviews the differential diagnosis and evaluation of patients with proximal myopathy and excessive accumulation of lipid on muscle biopsy.

Keywords: electron transfer flavoprotein; electron transfer flavoprotein-ubiquinone oxidoreductase; fatty acid oxidation disorders; lipid storage myopathy; multiple acyl-CoA dehydrogenase deficiency.

Publication types

  • Case Reports

MeSH terms

  • Adult
  • Female
  • Humans
  • Lipid Metabolism, Inborn Errors / diagnosis*
  • Lipid Metabolism, Inborn Errors / etiology*
  • Multiple Acyl Coenzyme A Dehydrogenase Deficiency / complications*
  • Multiple Acyl Coenzyme A Dehydrogenase Deficiency / diagnosis*
  • Muscular Dystrophies / diagnosis*
  • Muscular Dystrophies / etiology*

Supplementary concepts

  • Myopathy with Abnormal Lipid Metabolism