A case report on multiple acyl‐CoA dehydrogenase deficiency with severe myopathy and osteoporosis

Author:

Li Man1,Lin Zong‐Han2ORCID,Chen Ying‐Cheng2ORCID,Lin Pan1,Xie Yong Xin1,Wei James Cheng‐Chung234ORCID

Affiliation:

1. The Second Hospital of Longyan Longyan China

2. Institute of Medicine Chung Shan Medical University Taichung Taiwan

3. Graduate Institute of Integrated Medicine China Medical University Taichung Taiwan

4. Department of Allergy, Immunology & Rheumatology Chung Shan Medical University Hospital Taichung Taiwan

Abstract

AbstractA 35‐year‐old male patient presented fluctuating bilateral lower extremity weakness for 3 years. Physical examination showed grade 4 proximal muscle weakness in both lower extremities and grade 5 distal muscle weakness. Laboratory data revealed elevated creatine kinase, triglycerides, and cholesterol. Muscle pathology showed deposition of lipid droplet under the sarcolemma. Bone densitometry indicated severe osteoporosis. Next‐generation sequencing revealed a pathogenic mutation in the ETFDH gene. The patient was diagnosed with late‐onset multiple acyl‐CoA dehydrogenase deficiency. After riboflavin treatment, symptoms of the patient were relieved, physical endurance was restored, and bone mineral density was improved.

Publisher

Wiley

Subject

Rheumatology

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