Akademik Veri Yönetim Sistemi
Abant Tıp Dergisi, cilt.14, ss.230-233, 2025 (TRDizin)
Very long-chain acyl-CoA dehydrogenase (VLCAD) deficiency is a hereditary disorder of mitochondrial long-chain fatty acid oxidation. It is a syndrome characterized by rhabdomyolysis, muscle necrosis, and release of intracellular muscle components into the circulation. A 29-year-old male patient with hypertension, arrhythmia, and preemptive renal transplantation history was admitted to our clinic with complaints of recurrent hematuria attacks, body pain, and dizziness. No erythrocytes were observed in the microscopic field of urine sediment. In genetic analysis, a homozygous mutation was detected in the ACADVL gene in the NM_000018.4 C.1500_1502del CCT p. L502del variation, and VLCAD deficiency was diagnosed. We planned to discuss the case with the literature in order to emphasize that metabolic myopathies should also be evaluated in the etiology of patients who develop acute renal failure presenting with recurrent non-traumatic exercise-associated rhabdomyolysis.