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 OCTN2.
