Episodic hyperCKaemia may be a feature of α-methylacyl-coenzyme A racemase deficiency

Eur J Neurol. 2021 Feb;28(2):729-731. doi: 10.1111/ene.14588.


α-methylacyl-CoA racemase (AMACR) deficiency is a rare disorder, affecting peroxisomal metabolism of pristanic acid, with ten published adult cases. We describe an AMACR deficiency case with a clinical presentation dominated by episodic hyperCKaemia, suggesting that myopathic features of AMACR should be considered.

Keywords: hyperCKaemia; muscular diseases; myopathy; rhabdomyolysis; α-methylacyl-CoA racemase (AMACR) deficiency.

Publication types

  • Case Reports

MeSH terms

  • Adult
  • Coenzyme A
  • Humans
  • Lipid Metabolism, Inborn Errors*
  • Racemases and Epimerases* / genetics


  • Racemases and Epimerases
  • alpha-methylacyl-CoA racemase
  • Coenzyme A