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Fulminant lipid storage myopathy due to multiple acyl‐coenzyme a dehydrogenase deficiency
Author(s) -
Whitaker Charles H.,
Felice Kevin J.,
Silvers David,
Wu Qian
Publication year - 2015
Publication title -
muscle and nerve
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.025
H-Index - 145
eISSN - 1097-4598
pISSN - 0148-639X
DOI - 10.1002/mus.24552
Subject(s) - muscle biopsy , myopathy , mitochondrial myopathy , myalgia , rhabdomyolysis , medicine , carnitine , endocrinology , muscle weakness , lipid metabolism , pathology , biopsy , biology , biochemistry , mitochondrial dna , gene
: 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. Muscle Nerve 52 : 289–293, 2015