Please use this identifier to cite or link to this item: http://hdl.handle.net/20.500.12188/25085
Title: Rhabdomyolysis Associated with Recent SARS-COV-2 Infection in a Patient with Carnitine Palmitoyltransferase II Deficiency
Authors: Rambabova Bushljetic, Irena 
Dzekova Vidimliski, Pavlina 
Karanfilovski, Vlatko 
Shterjova Markovska, Zhaklina 
Cana, Fadil
Bushljetikj, Oliver
Krstevska balkanov, Svetlana 
Kapedanovska Nestorovska, Aleksandra 
Dimovski, Aleksandar 
Issue Date: 1-Nov-2022
Publisher: Macedonian Academy of Sciences and Arts / Walter de Gruyter GmbH
Journal: Prilozi (Makedonska akademija na naukite i umetnostite. Oddelenie za medicinski nauki) 
Abstract: Carnitine palmitoyltransferase II deficiency (CPT II) is an autosomal recessive inherited disorder of long-chain fatty acid oxidation in the mitochondrial matrix, resulting in an inability to utilize fat for energy in cells. The most frequent myopathic form occurs in young adults and is associated with recurrent episodes of exercise-induced rhabdomyolysis. The myopathic form is caused by the Ser113Leu mutation of the CPT II gene. Rarely, massive rhabdomyolysis could be complicated by acute kidney injury (AKI), car-diomyopathy, and respiratory insufficiency.We present a case of an 18-year old male with myalgia, muscular weakness, and dark-colored urine after prolonged exercise and a recent mildSARS-CoV-2infection. Massive rhabdomyolysis was diagnosed with markedly increased serum concentrations of myoglobin and creatine kinase, with normal kidney function. The patient experienced two similar episodes in the years 2017 and 2018, with rhabdomyolysis and AKI treated with hemodialysis. After excluding autoimmune and infectious diseases as causes of recurrent rhab-domyolysis, the patient was genetically tested and Ser113Leu mutation of the CPT II gene was confirmed. When a patient presents with myalgia and dark-colored urine triggered by minor physical activities, genetic testing for possible CPT II deficiency should be initiated. TheSARS-CoV-2infection could be a factor that triggers the occurrence of rhabdomyolysis and aggravates the severity of the attack in patients with CPT II deficiency
URI: http://hdl.handle.net/20.500.12188/25085
DOI: 10.2478/prilozi-2022-0037
Appears in Collections:Faculty of Medicine: Journal Articles

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