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

alpha-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.

Automated summary

AMACR deficiency case presenting with episodic hyperCKaemia suggests possible myopathic features and should be considered in clinical assessment.