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Episodic hyperCKaemia may be a feature of α‐methylacyl‐coenzyme A racemase deficiency
Author(s) -
Krett B.,
Straub V.,
Vissing J.
Publication year - 2021
Publication title -
european journal of neurology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.881
H-Index - 124
eISSN - 1468-1331
pISSN - 1351-5101
DOI - 10.1111/ene.14588
Subject(s) - medicine , presentation (obstetrics) , peroxisomal disorder , feature (linguistics) , peroxisome , coenzyme a , biochemistry , enzyme , biology , surgery , linguistics , philosophy , receptor , reductase
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.