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Fulminant lipid storage myopathy due to multiple acyl-coenzyme a dehydrogenase deficiency.
Muscle Nerve. 2015 Aug; 52(2):289-93.MN

Abstract

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.

Authors+Show Affiliations

Department of Neuromuscular Medicine, Hospital for Special Care, 2150 Corbin Avenue, New Britain, Connecticut, 06053, USA.Department of Neuromuscular Medicine, Hospital for Special Care, 2150 Corbin Avenue, New Britain, Connecticut, 06053, USA.Department of Neurology, Hartford Hospital, Hartford, Connecticut, USA.Deparment of Pathology, University of Connecticut Health Center, Farmington, Connecticut, USA.

Pub Type(s)

Case Reports
Journal Article

Language

eng

PubMed ID

25556768

Citation

Whitaker, Charles H., et al. "Fulminant Lipid Storage Myopathy Due to Multiple Acyl-coenzyme a Dehydrogenase Deficiency." Muscle & Nerve, vol. 52, no. 2, 2015, pp. 289-93.
Whitaker CH, Felice KJ, Silvers D, et al. Fulminant lipid storage myopathy due to multiple acyl-coenzyme a dehydrogenase deficiency. Muscle Nerve. 2015;52(2):289-93.
Whitaker, C. H., Felice, K. J., Silvers, D., & Wu, Q. (2015). Fulminant lipid storage myopathy due to multiple acyl-coenzyme a dehydrogenase deficiency. Muscle & Nerve, 52(2), 289-93. https://doi.org/10.1002/mus.24552
Whitaker CH, et al. Fulminant Lipid Storage Myopathy Due to Multiple Acyl-coenzyme a Dehydrogenase Deficiency. Muscle Nerve. 2015;52(2):289-93. PubMed PMID: 25556768.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Fulminant lipid storage myopathy due to multiple acyl-coenzyme a dehydrogenase deficiency. AU - Whitaker,Charles H, AU - Felice,Kevin J, AU - Silvers,David, AU - Wu,Qian, Y1 - 2015/02/11/ PY - 2014/12/16/accepted PY - 2015/1/6/entrez PY - 2015/1/6/pubmed PY - 2015/10/17/medline KW - electron transfer flavoprotein KW - electron transfer flavoprotein-ubiquinone oxidoreductase KW - fatty acid oxidation disorders KW - lipid storage myopathy KW - multiple acyl-CoA dehydrogenase deficiency SP - 289 EP - 93 JF - Muscle & nerve JO - Muscle Nerve VL - 52 IS - 2 N2 - 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. SN - 1097-4598 UR - https://www.unboundmedicine.com/medline/citation/25556768/Fulminant_lipid_storage_myopathy_due_to_multiple_acyl_coenzyme_a_dehydrogenase_deficiency_ L2 - https://doi.org/10.1002/mus.24552 DB - PRIME DP - Unbound Medicine ER -