Recurrent rhabdomyolysis caused by carnitine palmitoyltransferase II deficiency, common but under-recognised: Lessons to be learnt

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 phenot...

Descripción completa

Detalles Bibliográficos
Autores principales: Balasubramanian, M., Jenkins, T.M., Kirk, R.J., Nesbitt, I.M., Olpin, S.E., Hill, M., Gillett, G.T.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2018
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5938603/
https://www.ncbi.nlm.nih.gov/pubmed/29744303
http://dx.doi.org/10.1016/j.ymgmr.2018.02.008
_version_ 1783320812843958272
author Balasubramanian, M.
Jenkins, T.M.
Kirk, R.J.
Nesbitt, I.M.
Olpin, S.E.
Hill, M.
Gillett, G.T.
author_facet Balasubramanian, M.
Jenkins, T.M.
Kirk, R.J.
Nesbitt, I.M.
Olpin, S.E.
Hill, M.
Gillett, G.T.
author_sort Balasubramanian, M.
collection PubMed
description 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.
format Online
Article
Text
id pubmed-5938603
institution National Center for Biotechnology Information
language English
publishDate 2018
publisher Elsevier
record_format MEDLINE/PubMed
spelling pubmed-59386032018-05-09 Recurrent rhabdomyolysis caused by carnitine palmitoyltransferase II deficiency, common but under-recognised: Lessons to be learnt Balasubramanian, M. Jenkins, T.M. Kirk, R.J. Nesbitt, I.M. Olpin, S.E. Hill, M. Gillett, G.T. Mol Genet Metab Rep Case Report 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. Elsevier 2018-03-06 /pmc/articles/PMC5938603/ /pubmed/29744303 http://dx.doi.org/10.1016/j.ymgmr.2018.02.008 Text en © 2018 The Authors http://creativecommons.org/licenses/by-nc-nd/4.0/ This is an open access article under the CC BY-NC-ND license (http://creativecommons.org/licenses/by-nc-nd/4.0/).
spellingShingle Case Report
Balasubramanian, M.
Jenkins, T.M.
Kirk, R.J.
Nesbitt, I.M.
Olpin, S.E.
Hill, M.
Gillett, G.T.
Recurrent rhabdomyolysis caused by carnitine palmitoyltransferase II deficiency, common but under-recognised: Lessons to be learnt
title Recurrent rhabdomyolysis caused by carnitine palmitoyltransferase II deficiency, common but under-recognised: Lessons to be learnt
title_full Recurrent rhabdomyolysis caused by carnitine palmitoyltransferase II deficiency, common but under-recognised: Lessons to be learnt
title_fullStr Recurrent rhabdomyolysis caused by carnitine palmitoyltransferase II deficiency, common but under-recognised: Lessons to be learnt
title_full_unstemmed Recurrent rhabdomyolysis caused by carnitine palmitoyltransferase II deficiency, common but under-recognised: Lessons to be learnt
title_short Recurrent rhabdomyolysis caused by carnitine palmitoyltransferase II deficiency, common but under-recognised: Lessons to be learnt
title_sort recurrent rhabdomyolysis caused by carnitine palmitoyltransferase ii deficiency, common but under-recognised: lessons to be learnt
topic Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5938603/
https://www.ncbi.nlm.nih.gov/pubmed/29744303
http://dx.doi.org/10.1016/j.ymgmr.2018.02.008
work_keys_str_mv AT balasubramanianm recurrentrhabdomyolysiscausedbycarnitinepalmitoyltransferaseiideficiencycommonbutunderrecognisedlessonstobelearnt
AT jenkinstm recurrentrhabdomyolysiscausedbycarnitinepalmitoyltransferaseiideficiencycommonbutunderrecognisedlessonstobelearnt
AT kirkrj recurrentrhabdomyolysiscausedbycarnitinepalmitoyltransferaseiideficiencycommonbutunderrecognisedlessonstobelearnt
AT nesbittim recurrentrhabdomyolysiscausedbycarnitinepalmitoyltransferaseiideficiencycommonbutunderrecognisedlessonstobelearnt
AT olpinse recurrentrhabdomyolysiscausedbycarnitinepalmitoyltransferaseiideficiencycommonbutunderrecognisedlessonstobelearnt
AT hillm recurrentrhabdomyolysiscausedbycarnitinepalmitoyltransferaseiideficiencycommonbutunderrecognisedlessonstobelearnt
AT gillettgt recurrentrhabdomyolysiscausedbycarnitinepalmitoyltransferaseiideficiencycommonbutunderrecognisedlessonstobelearnt

Ejemplares similares