Recurrent myoglobinuria as a presenting manifestation of very long chain acyl coenzyme A dehydrogenase deficiency.

Abstract

Eleven inherited defects of mitochondrial fatty acid oxidation have been described. The usual clinical picture is that of fasting nonketotic hypoglycemia, cardiomyopathy, Reye-like syndrome, sudden infant death syndrome, peripheral neuropathy, and retinopathy.1,2,4 In 1992 a new acyl coenzyme A dehydrogenase, located in the membrane of rat liver mitochondria, was described.3 The enzyme was designated very long chain acyl coenzyme A dehydrogenase (VLCAD) because of its substantial activity toward long and very long chain (C14-C22) fatty acyl coenzyme A esters.5-8 This case report describes the clinical and laboratory data of a patient with VLCAD deficiency and emphasizes the role of oral carnitine supplementation and dietary management in ameliorating the signs and symptoms of the disease. An 11-year-old girl was admitted with severe muscle cramps and voiding of dark red urine. Two weeks before admission, she had developed streptococcal pharyngitis with systemic fever and a positive throat culture. The patient was treated with penicillin G, 2g/d for 10 days. On the day of admission, she had attended a dance party, which involved mild to moderate physical effort. During the party she began to feel an aching pain in her lower limbs, which progressed to a degree that she could not move. Past medical history was uneventful. She was the third of 4 children born to healthy parents who are second-degree cousins of Jewish-Iraqi origin. Her early development had been entirely normal, and she had no documented hypoglycemic …