title: Fulminant lipid storage myopathy due to multiple acyl-coenzyme a dehydrogenase deficiency.
abstract: BACKGROUND
  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.
authors.affiliation: Department of Neuromuscular Medicine, Hospital for Special Care, 2150 Corbin Avenue, New Britain, Connecticut, 06053, USA.
authors.forename: Charles H
authors.initials: CH
authors.lastname: Whitaker
authors.affiliation: Department of Neuromuscular Medicine, Hospital for Special Care, 2150 Corbin Avenue, New Britain, Connecticut, 06053, USA.
authors.forename: Kevin J
authors.initials: KJ
authors.lastname: Felice
authors.affiliation: Department of Neurology, Hartford Hospital, Hartford, Connecticut, USA.
authors.forename: David
authors.initials: D
authors.lastname: Silvers
authors.affiliation: Deparment of Pathology, University of Connecticut Health Center, Farmington, Connecticut, USA.
authors.forename: Qian
authors.initials: Q
authors.lastname: Wu
mesh_terms: D000328:Adult; D005260:Female; D006801:Humans; D008052:Lipid Metabolism, Inborn Errors / Q000175:diagnosis* / Q000209:etiology*; D054069:Multiple Acyl Coenzyme A Dehydrogenase Deficiency / Q000150:complications* / Q000175:diagnosis*; D009136:Muscular Dystrophies / Q000175:diagnosis* / Q000209:etiology*
keywords: electron transfer flavoprotein; electron transfer flavoprotein-ubiquinone oxidoreductase; fatty acid oxidation disorders; lipid storage myopathy; multiple acyl-CoA dehydrogenase deficiency