A boy was first seen at the age of 1 year on account of congestive cardiomyopathy. Growth and development had been normal. Total plasma carnitine was extremely low (1.8 μmol/l; normal range: 25–64 μmol/l). No hypoglycaemia, lactic acidaemia or dicarboxylic aciduria were found. Other laboratory findings were unremarkable except for a slight deficiency in iron, vitamin D and vitamin E. Total muscle carnitine was 1.5% of normal; however, no signs or symptoms of myopathy could be detected. After carnitine loading, liver carnitine increased to 24% of normal. Isolated muscle mitochondria showed decreased oxidative capacity with all substrates tested. Stimulation of O2 uptake by adenosine diphosphate (ADP) was decreased. After loading with both intravenous and oral carnitine, there was a rise in plasma carnitine and a rapid loss in the urine and the faeces. These findings suggest a defect in the brush border carnitine transport system of the kidneys and of the small intestine. Renal clearance of carnitine was abnormally high. Therapy with 1 g oral l-carnitine/kg per day was instituted without any problems and the cardiac disease resolved within 3 months. The parents and the patient's five sibs also had low plasma carnitine but displayed no cardiomyopathy.
Cardiomyopathy Carnitine Carnitine deficiency Carnitine transport defect Kidney