Adult-onset Repeat Rhabdomyolysis with a Very Long-chain Acyl-CoA Dehydrogenase Deficiency Due to Compound Heterozygous ACADVL Mutations

Yasuhiro Fuseya; Takeyo Sakurai; Jun-ichi Miyahara; Kei Sato; Seiji Kaji; Yoshihiko Saito; Makio Takahashi; Ichizo Nishino; Tokiko Fukuda; Hideo Sugie; Hirofumi Yamashita

doi:10.2169/internalmedicine.4604-20

CASE REPORTS

Adult-onset Repeat Rhabdomyolysis with a Very Long-chain Acyl-CoA Dehydrogenase Deficiency Due to Compound Heterozygous ACADVL Mutations

Yasuhiro Fuseya, Takeyo Sakurai, Jun-ichi Miyahara, Kei Sato, Seiji Kaji, Yoshihiko Saito, Makio Takahashi, Ichizo Nishino, Tokiko Fukuda, Hideo Sugie, Hirofumi Yamashita

Author information

Yasuhiro Fuseya
Department of Molecular and Cellular Physiology, Graduate School of Medicine, Kyoto University, Japan
Department of Neurology, Graduate School of Medicine, Kyoto University Hospital, Japan
Takeyo Sakurai
Sakurai Clinic, Japan
Jun-ichi Miyahara
Department of Neurology, Tominaga Hospital, Japan
Kei Sato
Department of Neurology, Uji Hospital, Japan
Seiji Kaji
Department of Neurology, Graduate School of Medicine, Kyoto University Hospital, Japan
Department of Neurology, Japanese Red Cross Wakayama Medical Center, Japan
Yoshihiko Saito
Department of Neuromuscular Research, National Institute of Neuroscience, National Center of Neurology and Psychiatry, Japan
Makio Takahashi
Department of Neurology, Japanese Red Cross Osaka Hospital, Japan
Ichizo Nishino
Department of Neuromuscular Research, National Institute of Neuroscience, National Center of Neurology and Psychiatry, Japan
Tokiko Fukuda
Department of Pediatrics, Hamamatsu University School of Medicine, Japan
Hideo Sugie
Faculty of Health and Medical Sciences, Tokoha University, Japan
Hirofumi Yamashita
Department of Neurology, Japanese Red Cross Wakayama Medical Center, Japan

Keywords: very long-chain acyl-CoA dehydrogenase deficiency, ACADVL, rhabdomyolysis

JOURNAL OPEN ACCESS

2020 Volume 59 Issue 21 Pages 2729-2732

DOI https://doi.org/10.2169/internalmedicine.4604-20

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Abstract

Very long-chain acyl-CoA dehydrogenase (VLCAD) deficiency is a genetic disorder of fatty acid beta oxidation that is caused by a defect in ACADVL, which encodes VLCAD. The clinical presentation of VLCAD deficiency is heterogeneous, and either a delayed diagnosis or a misdiagnosis may sometimes occur. We herein describe a difficult-to-diagnose case of the muscle form of adult-onset VLCAD deficiency with compound heterozygous ACADVL mutations including c.790A>G (p.K264E) and c.1246G>A (p.A416T).

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