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Rigshospitalet - a part of Copenhagen University Hospital
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Episodic hyperCKaemia may be a feature of α-methylacyl-coenzyme A racemase deficiency

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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 languageEnglish
JournalEuropean Journal of Neurology
Volume28
Issue number2
Pages (from-to)729-731
Number of pages3
ISSN1351-5101
DOIs
Publication statusPublished - Feb 2021

Bibliographical note

© 2020 European Academy of Neurology.

    Research areas

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

ID: 61071064