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

B Krett; V Straub; J Vissing

doi:10.1111/ene.14588

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.

Authors

B Krett¹, V Straub², J Vissing¹

Affiliations

¹ Copenhagen Neuromuscular Center, Department of Neurology, Rigshospitalet, University of Copenhagen, Copenhagen, Denmark.
² John Walton Muscular Dystrophy Research Centre, Translational and Clinical Research Institute, Newcastle University and Newcastle Hospitals NHS Foundation Trust, Newcastle upon Tyne, UK.

PMID: 33047465
DOI: 10.1111/ene.14588

Abstract

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

Substances

Racemases and Epimerases
alpha-methylacyl-CoA racemase
Coenzyme A