Abstract
Primary carnitine deficiency (PCD) is an autosomal recessive disorder of fatty-acid oxidation caused by deficiency in the plasma membrane carnitine transporter. Carnitine plays an essential part in the transfer of long-chain fatty acids across the inner mitochondrial membrane. Carnitine deficiency blocks the mitochondrial oxidation of fatty acids to carbon dioxide, and can result in acute metabolic decompensation with hepatic encephalopathy, hypoketotic hypoglycemia or, in a more insidious presentation, cardiomyopathy [1].
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