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

Bjørg Krett; Volker Straub; John Vissing

doi:10.1111/ene.14588

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

Bjørg Krett, Volker Straub, John Vissing

Department of Neurology

6 Citations (Scopus)

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.

Original language	English
Journal	European Journal of Neurology
Volume	28
Issue number	2
Pages (from-to)	729-731
Number of pages	3
ISSN	1351-5101
DOIs	https://doi.org/10.1111/ene.14588
Publication status	Published - Feb 2021

Keywords

&#8208
&#945
CoA racemase (AMACR) deficiency
hyperCKaemia
methylacyl&#8208
muscular diseases
myopathy
rhabdomyolysis
α-methylacyl-CoA racemase (AMACR) deficiency

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10.1111/ene.14588

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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.",

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AU - Straub, Volker

AU - Vissing, John

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KW - myopathy

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

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