Case Study

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

Corresponding Author

B. Krett

[email protected]

orcid.org/0000-0001-7612-7073

Copenhagen Neuromuscular Center, Department of Neurology, Rigshospitalet, University of Copenhagen, Copenhagen, Denmark

Correspondence: B. Krett, Copenhagen Neuromuscular Center, section 8077, Rigshospitalet, Blegdamsvej 9, DK-2100 Copenhagen, Denmark (tel.: +45 3545 6135; fax: +4535456138; e-mail: [email protected]).

Contribution: Investigation (equal), Writing - original draft (lead), Writing - review & editing (equal)

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V. Straub,

V. Straub

John Walton Muscular Dystrophy Research Centre, Translational and Clinical Research Institute, Newcastle University and Newcastle Hospitals NHS Foundation Trust, Newcastle upon Tyne, UK

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J. Vissing,

J. Vissing

Copenhagen Neuromuscular Center, Department of Neurology, Rigshospitalet, University of Copenhagen, Copenhagen, Denmark

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B. Krett,

Corresponding Author

B. Krett

[email protected]

orcid.org/0000-0001-7612-7073

Copenhagen Neuromuscular Center, Department of Neurology, Rigshospitalet, University of Copenhagen, Copenhagen, Denmark

Correspondence: B. Krett, Copenhagen Neuromuscular Center, section 8077, Rigshospitalet, Blegdamsvej 9, DK-2100 Copenhagen, Denmark (tel.: +45 3545 6135; fax: +4535456138; e-mail: [email protected]).

Contribution: Investigation (equal), Writing - original draft (lead), Writing - review & editing (equal)

Search for more papers by this author

V. Straub,

V. Straub

John Walton Muscular Dystrophy Research Centre, Translational and Clinical Research Institute, Newcastle University and Newcastle Hospitals NHS Foundation Trust, Newcastle upon Tyne, UK

Search for more papers by this author

J. Vissing,

J. Vissing

Copenhagen Neuromuscular Center, Department of Neurology, Rigshospitalet, University of Copenhagen, Copenhagen, Denmark

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First published: 12 October 2020

https://doi.org/10.1111/ene.14588

Citations: 9

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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.

Disclosure of conflicts of interest

The authors declare that they have no conflicts of interest.

Open Research

Data availability statement

The data concerning the published patient are available upon request.

References

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Volume28, Issue2

February 2021

Pages 729-731

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

Abstract

Disclosure of conflicts of interest

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Data availability statement

References

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

Abstract

Disclosure of conflicts of interest

Open Research

Data availability statement

References

Citing Literature

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