Carnitine Palmitoyltransferase II Deficiency (CPT II) Followed By Rhabdomyolysis and Acute Kidney Injury
Author(s) -
Nikola Gjorgjievski,
Pavlina DzekovaVidimliski,
Zvezdana Petronijevic,
Gjulsen Selim,
Petar Dejanov,
Лилјана Тозија,
Aleksandar Sikole
Publication year - 2018
Publication title -
open access macedonian journal of medical sciences
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.288
H-Index - 17
ISSN - 1857-9655
DOI - 10.3889/oamjms.2018.158
Subject(s) - rhabdomyolysis , medicine , myalgia , myoglobinuria , acute kidney injury , hemodialysis , pediatrics
Carnitine palmitoyltransferase II deficiency (CPT II) is an autosomal recessive disorder and the most common inherited disorder of mitochondrial long-chain fatty acid oxidation, characterised by attacks of myalgia and myoglobinuria. The most common "classic" myopathic form occurs in young adults and is characterised by recurrent episodes of rhabdomyolysis triggered by prolonged exercise, fasting or febrile illness.
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