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

• Published in: Internal Medicine Vol. 59; no. 21; pp. 2729 - 2732
• Main Authors: Takahashi, Makio, Sakurai, Takeyo, Sato, Kei, Kaji, Seiji, Nishino, Ichizo, Fukuda, Tokiko, Sugie, Hideo, Fuseya, Yasuhiro, Miyahara, Jun-ichi, Saito, Yoshihiko, Yamashita, Hirofumi
• Format: Journal Article
• Language: English
• Published: Japan The Japanese Society of Internal Medicine 01.11.2020; Japan Science and Technology Agency
• Subjects: ACADVL; Acyl-CoA dehydrogenase; Acyl-CoA Dehydrogenase, Long-Chain - deficiency; Acyl-CoA Dehydrogenase, Long-Chain - genetics; Adult; Case Report; Congenital Bone Marrow Failure Syndromes - diagnosis; Congenital Bone Marrow Failure Syndromes - genetics; Congenital Bone Marrow Failure Syndromes - physiopathology; Congenital Bone Marrow Failure Syndromes - therapy; Dehydrogenases; Genetic disorders; Genetic Variation; Humans; Internal medicine; Japan; Male; Mutation; Oxidation; Rhabdomyolysis; Rhabdomyolysis - diagnosis; Rhabdomyolysis - etiology; Rhabdomyolysis - physiopathology; Rhabdomyolysis - therapy; very long-chain acyl-CoA dehydrogenase deficiency; Japan; ACADVL; rhabdomyolysis; very long-chain acyl-CoA dehydrogenase deficiency
• ISSN: 0918-2918; 1349-7235; 1349-7235
• DOI: 10.2169/internalmedicine.4604-20

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).