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

著者情報

キーワード: very long-chain acyl-CoA dehydrogenase deficiency, ACADVL, rhabdomyolysis

ジャーナルオープンアクセス

2020 年 59 巻 21 号 p. 2729-2732

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

Browse “Advance online publication” version

詳細

抄録

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).

責任著者(Corresponding author)

J-STAGEへの登録はこちら（無料）