ABSTRACT
Hypoketotic hypoglycemia, seizures, vomiting, lethargy progressive to coma; cardiomyopathy; chronic muscle weakness; carnitine deficiency in plasma and muscle, and increased excretion of free carnitine in urine; defective transport of carnitine into cultured fibroblasts and mutations in the SLC22A5 gene which codes for the sodium ion-dependent carnitine transporter organic cation transporter. The inborn errors of fatty acid oxidation, including carnitine transporter deficiency, represent a relatively recently recognized area of human disease. The rate of discovery of distinct disorders has increased rapidly since the discovery of medium-chain acyl CoA dehydrogenase deficiency in 1982. The classic, and frequently the initial presentation of carnitine transporter deficiency, is hypoketotic hypoglycemia, as in most disorders of fatty acid oxidation. Clinical chemistry in the acute hypoketotic episode is also consistent with Reye syndrome, with hyperammonemia and increased levels of transaminases.
