title: [Cardiomyopathy caused by carnitine deficiency].
abstract: Primary carnitine deficiency often presents as progressive cardiomyopathy. It is due to a defect in the plasma membrane carnitine transport system that is normally present in heart, muscle and kidney. This system serves to maintain intracellular carnitine levels 20-50 times higher than plasma concentrations. Patients with this defect cannot maintain adequate carnitine levels in muscle tissue for fatty acid oxidation. One case of primary carnitine deficiency is described. Two siblings had died earlier probably due to the same disease. The eight month old boy presented with a common cold and cardiomyopathy. He was treated with digoxin and diuretics until the diagnosis was confirmed. The patient's uptake of carnitine in fibroblasts was extremely low, about 5% of the normal range. The father had about 50% reduction of carnitine uptake in fibroblasts, the mother showed no sign of impaired uptake. The boy was treated with oral carnitine, 100 mg/kg/day. There was a normal level of carnitine in serum after two months of treatment and the cardiomyopathy disappeared completely in one year. Primary carnitine deficiency is a treatable disorder and therefore skeletal muscle biopsy and blood chemistry should be performed in all children with undiagnosed cardiomyopathy. Treatment with oral carnitine must be initiated quickly to avoid sudden death.
authors.affiliation: Paediatrisk afdeling, Kolding Sygehus.
authors.forename: J
authors.initials: J
authors.lastname: Vikre-Jørgensen
mesh_terms: D009202:Cardiomyopathies / Q000175:diagnosis / Q000188:drug therapy / Q000209:etiology*; D002331:Carnitine / Q000008:administration & dosage / Q000172:deficiency*; D006801:Humans; D007223:Infant; D008297:Male; D011379:Prognosis
chemical_list: D002331:Carnitine
vernacular_title: Kardiomyopati forårsaget af karnitinmangel.