Exacerbation of myopathy triggered by antiobesity drugs in a patient with multiple acyl-CoA dehydrogenase deficiency

Po-Yu Lin,Yuan-Ting Sun,Wen-Chen Liang,Wei-An Liao

doi:10.1186/s12883-021-02121-y

Abstract

BackgroundMultiple acyl-CoA dehydrogenase deficiency (MADD) is a treatable lipid metabolism disorder that presents as myopathy and episodic metabolic crisis. The metabolic crisis is typically associated with prolonged fasting or physical stress; however, the mechanism of metabolic crisis is not yet fully understood.Case presentationA 28-year-old Taiwanese woman presented with dyspnoea, poor appetite, and muscle weakness after using antiobesity drugs, including metformin, triiodothyronine, and topiramate. MADD was diagnosed, and her symptoms rapidly improved after treatment with riboflavin, carnitine, and ubiquinone. To date, antiobesity drugs have not been reported to be a provoking factor in fatty acid oxidation disorder.ConclusionsThe increase of β-oxidation activity due to antiobesity drugs supports the hypothetical substrate competition model for MADD metabolic crisis. Because the drugs our patient used are commonly prescribed, we report this case to increase the vigilance and proactivity of clinicians in recognising this treatable adult-onset myopathy.

Highlights

Multiple acyl-CoA dehydrogenase deficiency (MADD) is a treatable lipid metabolism disorder that presents as myopathy and episodic metabolic crisis
MADD is a lipid metabolism disorder that is caused by defects in electron transfer flavoprotein, which is encoded by ETFA and ETFB, or defects in electron transfer flavoprotein dehydrogenase, encoded by the ETFDH
Electron transfer flavoprotein and electron transfer flavoprotein dehydrogenase are located on the matrix face of the inner mitochondrial membrane and are involved in the oxidation of fatty acids

Summary

Introduction

Multiple acyl-CoA dehydrogenase deficiency (MADD) is a treatable lipid metabolism disorder that presents as myopathy and episodic metabolic crisis. Background Multiple acyl-CoA dehydrogenase deficiency (MADD) is a lipid metabolism disorder caused by defects in electron transfer flavoprotein or electron transfer protein dehydrogenase, encoded by ETFA, ETFB, and ETFDH. Patients with late-onset MADD typically present with lipid storage myopathy and episodic metabolic crisis.

Results

Conclusion