Key result
Genetic testing revealed a homozygous mutation in the ACADVL gene, confirming adult-onset VLCAD deficiency as the cause of recurrent rhabdomyolysis in a kidney transplant recipient.
Why the study?
To emphasize that metabolic myopathies should be evaluated in patients developing acute renal failure with recurrent non-traumatic exercise-associated rhabdomyolysis.
Case Report (n=1)
No
Metabolic myopathies such as VLCAD deficiency should be considered in the differential diagnosis of patients presenting with recurrent non-traumatic exercise-associated rhabdomyolysis and acute renal failure.
Answers are grounded in this paper and cite their sources.
May signal VLCAD deficiency in transplant patients with arrhythmia; leaves open targeted screening studies.
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.
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Güvercin et al. (2025) conducted a case report in Adult-Onset VLCAD Deficiency and Recurrent Rhabdomyolysis (n=1). Adult-onset VLCAD deficiency was evaluated on Diagnosis of VLCAD deficiency. Genetic testing revealed a homozygous mutation in the ACADVL gene, confirming adult-onset VLCAD deficiency as the cause of recurrent rhabdomyolysis in a kidney transplant recipient.
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