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...

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Библиографические подробности
Опубликовано в: :Mol Genet Metab Rep
Главные авторы: Balasubramanian, M., Jenkins, T.M., Kirk, R.J., Nesbitt, I.M., Olpin, S.E., Hill, M., Gillett, G.T.
Формат: Artigo
Язык:Inglês
Опубликовано: Elsevier 2018
Предметы:
Case Report
Online-ссылка:https://ncbi.nlm.nih.gov/pmc/articles/PMC5938603/
https://ncbi.nlm.nih.gov/pubmed/29744303
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ymgmr.2018.02.008
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