Abstract
Background Rhabdomyolysis can be either inherited or acquired such as in metabolic myopathies. Very-long-chain acyl-CoA dehydrogenase deficiency is a rare fatty acid oxidation disorder which presents with different phenotypes, and the mild adult form can present as intermittent rhabdomyolysis. Here, we present the first adult case of very-long-chain acyl-CoA dehydrogenase deficiency presenting as rhabdomyolysis in a Sri Lankan patient. Case Presentation. A 36-year-old Sri Lankan man who was born to consanguineous parents presented with severe generalized muscle pain, stiffness, and dark-coloured urine for three days following prolonged low-intensity activity. Since fourteen years of age, he has had multiple similar episodes, where one episode was complicated with acute kidney injury. His eldest brother also suffered from the similar episode. Examination revealed only generalized muscle tenderness without any weakness. His creatine phosphokinase level was above 50,000 IU/L, and he had myoglobinuria. Molecular genetic tests confirmed the diagnosis of very-long-chain acyl-CoA dehydrogenase deficiency. Following a successful recovery devoid of complications, he remained asymptomatic with lifestyle adjustments. Conclusion Very-long-chain acyl-CoA dehydrogenase deficiency is a rare inherited cause of metabolic myopathy that gives rise to intermittent rhabdomyolysis in adults. Prompt diagnosis is essential to prevent complications and prevent its recurrence.
Highlights
Rhabdomyolysis is a syndrome characterized by severe acute muscle injury causing muscle pain, weakness, dark-coloured urine, and the release of intracellular muscle constituents into the circulation [1]
We report a case of very-long-chain acyl-CoA dehydrogenase (VLCAD) deficiency presenting as rhabdomyolysis in an adult man, which is an underdiagnosed condition in Sri Lanka. e clinical presentation with generalized muscle pain, stiffness, and dark-coloured urine with high creatine phosphokinase (CPK) levels suggested rhabdomyolysis
As he was born to consanguineous parents and had a family history of a similar illness, a metabolic myopathy was considered as the aetiology for rhabdomyolysis. e current and previous episodes were triggered by prolonged low-intensity exercise, and he was asymptomatic in between the episodes, suggesting a disorder of fatty acid metabolism, the most likely aetiology
Summary
Very-long-chain acyl-CoA dehydrogenase deficiency is a rare fatty acid oxidation disorder which presents with different phenotypes, and the mild adult form can present as intermittent rhabdomyolysis. We present the first adult case of very-long-chain acyl-CoA dehydrogenase deficiency presenting as rhabdomyolysis in a Sri Lankan patient. Since fourteen years of age, he has had multiple similar episodes, where one episode was complicated with acute kidney injury. His eldest brother suffered from the similar episode. Examination revealed only generalized muscle tenderness without any weakness His creatine phosphokinase level was above 50,000 IU/L, and he had myoglobinuria. Verylong-chain acyl-CoA dehydrogenase deficiency is a rare inherited cause of metabolic myopathy that gives rise to intermittent rhabdomyolysis in adults. Prompt diagnosis is essential to prevent complications and prevent its recurrence
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