%0 Case Reports
%T Adult-onset Repeat Rhabdomyolysis with a Very Long-chain Acyl-CoA Dehydrogenase Deficiency Due to Compound Heterozygous ACADVL Mutations.
%A Fuseya Y
%A Sakurai T
%A Miyahara JI
%A Sato K
%A Kaji S
%A Saito Y
%A Takahashi M
%A Nishino I
%A Fukuda T
%A Sugie H
%A Yamashita H
%J Intern Med
%V 59
%N 21
%D Nov 2020 1
%M 32669490
%F 1.282
%R 10.2169/internalmedicine.4604-20
%X 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).