%0 Case Reports
%T A case report on multiple acyl-CoA dehydrogenase deficiency with severe myopathy and osteoporosis.
%A Li M
%A Lin ZH
%A Chen YC
%A Lin P
%A Xie YX
%A Wei JC
%J Int J Rheum Dis
%V 27
%N 1
%D 2024 Jan 22
%M 37737545
%F 2.558
%R 10.1111/1756-185X.14906
%X A 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.