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Case of elderly‐onset multiple acyl‐CoA dehydrogenase deficiency with a novel ETFDH mutation shows progressive muscle weakness and rhabdomyolysis
Author(s) -
Seino Yusuke,
Nakamura Takumi,
Kawarabayashi Takeshi,
Wakasaya Yasuhito,
Hayashi Yukiko K.,
Okubo Mariko,
Nishino Ichizo,
Shoji Mikio
Publication year - 2018
Publication title -
neurology and clinical neuroscience
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.125
0ISSN - 2049-4173
DOI - 10.1111/ncn3.12177
Subject(s) - medicine , rhabdomyolysis , muscle biopsy , muscle weakness , weakness , creatine kinase , myopathy , endocrinology , gastroenterology , pediatrics , biopsy , surgery
A 59‐year‐old female, who had developed muscle stiffness and progressive muscle weakness 11 months earlier, was admitted to our hospital with acute rhabdomyolysis and muscle weakness of the neck and extremities. Markedly elevated levels of muscle enzymes, including creatine kinase, and severe metabolic acidosis were observed. A muscle biopsy revealed lipid storage myopathy. Genetic analysis detected a novel mutation in the electron‐transferring flavoprotein dehydrogenase ( ETFDH ) gene (c.547A > T (p.M183L)). The administration of high‐dose (120 mg/day) riboflavin rapidly improved the patient's symptoms and laboratory data, and she did not exhibit any symptoms at the 4‐year follow‐up. In this case of elderly‐onset multiple acyl‐CoA dehydrogenation deficiency, high‐dose riboflavin treatment produced a marked improvement in the patient's condition.