A case report showing how rhabdomyolysis after prolonged exercise and a mild SARS-CoV-2 infection led to a diagnosis of carnitine palmitoyltransferase 2 deficiency (CPT2 ), a form of long chain fatty acid oxidation disorder (LCFAOD), was published in Prilozi.

The patient was admitted to the hospital with myalgia, generalized muscle weakness, and dark-colored urine, plus nausea and vomiting. Two days prior to admittance, the patient had walked more than 9 km, and 3 weeks prior, the patient was diagnosed with a COVID-19 infection. The patient had severe rhabdomyolysis with increased levels of myoglobin and creatine kinase but normal liver function.

Read more about LCFAOD diagnosis


Continue Reading

Tests for autoimmune or other infectious diseases were negative with no sign of COVID-19 infection in the lungs. All other imaging performed had normal findings. The patient was treated with extensive fluid replacement before being discharged. At a 1-month follow-up, the patient no longer had any muscle pain and serum creatine kinase levels were only slightly elevated.

Similar episodes with rhabdomyolysis, myoglobinemia, and acute kidney injury were experienced by the patient in 2017 and 2018 after prolonged exercise and enterocolitis, respectively. The repetitive symptoms were indicative of a metabolic disorder with the clinical features and laboratory findings being supportive of a CPT2 diagnosis.

The patient was genetically tested and a homozygous Ser113Leu mutation (c.338C>T) of the CPT2 gene was found, indicating the adult myopathic form of hereditary CPT II deficiency. Subsequent testing revealed that the patient’s brother was also homozygous for the mutation but without symptoms requiring medical assistance. Neither parent had experienced any similar symptoms and they were not tested.

“The frequency of CPT II deficiency has been underestimated and many patients with CPT2 deficiency and a milder form of rhabdomyolysis remain undiagnosed. Therefore, when a patient presents with myalgia and dark-colored urine triggered by minor physical activities or infection, genetic testing for possible CPT2 deficiency should be initiated,” the authors suggested.

Reference

Rambabova-Bushljetik I, Dzekova-Vidimliski P, Karanfilovski V, et al. Rhabdomyolysis associated with recent SARS-COV-2 infection in a patient with carnitine palmitoyltransferase II deficiency. Pril (Makedon Akad Nauk Umet Odd Med Nauki). 2022;43(3):61-66. doi:10.2478/prilozi-2022-0037