A Case Report of Late-Onset Multiple Acyl-CoA Dehydrogenase Deficiency with Predominant Myopathic Manifestations

Liling LIN; Hanqi TANG; Min ZHANG; Min QIAN; Ling QIU; Hong HAN

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A Case Report of Late-Onset Multiple Acyl-CoA Dehydrogenase Deficiency with Predominant Myopathic Manifestations

VernacularTitle:以肌病为主要表现的迟发型多种酰基辅酶A脱氢酶缺乏症一例
Author: Liling LIN ¹ ; Hanqi TANG ² ; Min ZHANG ³ ; Min QIAN ⁴ ; Ling QIU ¹ ; Hong HAN ²
Author Information

1. Department of Laboratory Medicine, Chinese Academy of Medical Sciences & Peking Union Medical College, Beijing 100730, China;.
2. Department of Emergency, Chinese Academy of Medical Sciences & Peking Union Medical College, Beijing 100730, China;State Key Laboratory of Complex, Severe, and Rare Diseases, Chinese Academy of Medical Sciences & Peking Union Medical College, Beijing 100730, China;Critical and Emergency Pharmaceuticals & Medical Devices Innovation Lab, Chinese Academy of Medical Sciences & Peking Union Medical College, Beijing 100730, China;.
3. Department of Biochemistry and Immunology, Capital Institute of Pediatrics, Beijing 100020, China;.
4. Department of Neurology, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences & Peking Union Medical College, Beijing 100730, China;.
Publication Type:Journal Article
Keywords: multiple acyl-CoA dehydrogenase deficiency; late-onset; muscle weakness; vitamin B₂
From: JOURNAL OF RARE DISEASES 2026;5(3):360-366
CountryChina
Language:Chinese
Abstract:
Multiple acyl-CoA dehydrogenase deficiency (MADD) is a rare inherited metabolic disorder of fatty acid oxidation, with highly heterogeneous clinical manifestations. Late-onset MADD predominantly presenting with myopathic features is easily confused with inflammatory myopathy; early identification and administration of high-dose vitamin B₂ can achieve favorable therapeutic effects. This article reports a MADD patient with main manifestations of exercise intolerance and progressive post-exertion muscle weakness. The case is analyzed by integrating blood and urine metabolic screening results and genetic testing findings, so as to provide a reference for the early diagnosis of this disease.