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

AbstractINTRODUCTION:
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.
AuthorsCharles H Whitaker, Kevin J Felice, David Silvers, Qian Wu
JournalMuscle & nerve (Muscle Nerve) Vol. 52 Issue 2 Pg. 289-93 (Aug 2015) ISSN: 1097-4598 [Electronic] United States
PMID25556768 (Publication Type: Case Reports, Journal Article)
Copyright© 2014 Wiley Periodicals, Inc.
Topics
  • Adult
  • Female
  • Humans
  • Lipid Metabolism, Inborn Errors (diagnosis, etiology)
  • Multiple Acyl Coenzyme A Dehydrogenase Deficiency (complications, diagnosis)
  • Muscular Dystrophies (diagnosis, etiology)

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