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

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

Intern Med. 2020 Nov 1;59(21):2729-2732. doi: 10.2169/internalmedicine.4604-20. Epub 2020 Jul 14.

Authors

Yasuhiro Fuseya^{1

2}, Takeyo Sakurai³, Jun-Ichi Miyahara⁴, Kei Sato⁵, Seiji Kaji^{2

6}, Yoshihiko Saito⁷, Makio Takahashi⁸, Ichizo Nishino⁷, Tokiko Fukuda⁹, Hideo Sugie¹⁰, Hirofumi Yamashita⁶

Affiliations

¹ Department of Molecular and Cellular Physiology, Graduate School of Medicine, Kyoto University, Japan.
² Department of Neurology, Graduate School of Medicine, Kyoto University Hospital, Japan.
³ Sakurai Clinic, Japan.
⁴ Department of Neurology, Tominaga Hospital, Japan.
⁵ Department of Neurology, Uji Hospital, Japan.
⁶ Department of Neurology, Japanese Red Cross Wakayama Medical Center, Japan.
⁷ Department of Neuromuscular Research, National Institute of Neuroscience, National Center of Neurology and Psychiatry, Japan.
⁸ Department of Neurology, Japanese Red Cross Osaka Hospital, Japan.
⁹ Department of Pediatrics, Hamamatsu University School of Medicine, Japan.
¹⁰ Faculty of Health and Medical Sciences, Tokoha University, Japan.

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).

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

Publication types

Case Reports

MeSH terms

Acyl-CoA Dehydrogenase, Long-Chain / deficiency*
Acyl-CoA Dehydrogenase, Long-Chain / genetics*
Adult
Congenital Bone Marrow Failure Syndromes / diagnosis
Congenital Bone Marrow Failure Syndromes / genetics*
Congenital Bone Marrow Failure Syndromes / physiopathology*
Congenital Bone Marrow Failure Syndromes / therapy*
Genetic Variation
Humans
Japan
Male
Mutation
Rhabdomyolysis / diagnosis
Rhabdomyolysis / etiology
Rhabdomyolysis / physiopathology*
Rhabdomyolysis / therapy*

Substances

Acyl-CoA Dehydrogenase, Long-Chain