{Reference Type}: Case Reports
{Title}: Adult-onset Repeat Rhabdomyolysis with a Very Long-chain Acyl-CoA Dehydrogenase Deficiency Due to Compound Heterozygous ACADVL Mutations.
{Author}: Fuseya Y;Sakurai T;Miyahara JI;Sato K;Kaji S;Saito Y;Takahashi M;Nishino I;Fukuda T;Sugie H;Yamashita H;
{Journal}: Intern Med
{Volume}: 59
{Issue}: 21
{Year}: Nov 2020 1
{Factor}: 1.282
{DOI}: 10.2169/internalmedicine.4604-20
{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).