Nelson Textbook of Pediatrics 22nd Ed β Section 106.1. Primary carnitine transporter deficiency (SLC22A5), CPT1A deficiency, CACT deficiency (SLC25A20), CPT2 deficiency. Hypoketotic hypoglycemia, cardiomyopathy, rhabdomyolysis. Treatment: carnitine (transporter defect), triheptanoin, avoid fasting.
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