Balasubramanian, M. orcid.org/0000-0003-1488-3695, Jenkins, T.M., Kirk, R.J. et al. (4 more authors) (2018) Recurrent rhabdomyolysis caused by carnitine palmitoyltransferase II deficiency, common but under-recognised: Lessons to be learnt. Molecular Genetics and Metabolism Reports, 15. pp. 69-70. ISSN 2214-4269
Abstract
We discuss two adult siblings who presented with symptoms of myalgia and rhabdomyolysis following exercise with myoglobinuria; genetic testing confirmed carnitine palmitoyltransferase II deficiency and resulted in institution of appropriate crisis management and dietary advice. We explore the phenotypic variability of this commonest fatty oxidation defect that remains under-diagnosed in the adult population and provide clues for early recognition and diagnosis.
Metadata
Item Type: | Article |
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Authors/Creators: |
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Copyright, Publisher and Additional Information: | © 2018 The Authors. Published by Elsevier Inc. This is an open access article under the CC BY-NC-ND license (http://creativecommons.org/licenses/BY-NC-ND/4.0/). |
Keywords: | Myoglobinuria; CPT II deficiency; Autosomal recessive; Genetic counselling; Dietary advice; Rhabdomyolysis; Myopathy |
Dates: |
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Institution: | The University of Sheffield |
Academic Units: | The University of Sheffield > Faculty of Medicine, Dentistry and Health (Sheffield) > Department of Neuroscience (Sheffield) The University of Sheffield > Sheffield Teaching Hospitals |
Depositing User: | Symplectic Sheffield |
Date Deposited: | 28 Mar 2018 14:14 |
Last Modified: | 13 Sep 2018 13:23 |
Published Version: | https://doi.org/10.1016/j.ymgmr.2018.02.008 |
Status: | Published |
Publisher: | Elsevier |
Refereed: | Yes |
Identification Number: | 10.1016/j.ymgmr.2018.02.008 |
Open Archives Initiative ID (OAI ID): | oai:eprints.whiterose.ac.uk:128876 |