Abstract | INTRODUCTION: METHODS: 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.
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Authors | Charles H Whitaker, Kevin J Felice, David Silvers, Qian Wu |
Journal | Muscle & nerve
(Muscle Nerve)
Vol. 52
Issue 2
Pg. 289-93
(Aug 2015)
ISSN: 1097-4598 [Electronic] United States |
PMID | 25556768
(Publication Type: Case Reports, Journal Article)
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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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