A surviving 24-month-old patient with neonatal-onset carnitine palmitoyltransferase II deficiency

Abstract

The early-onset form of carnitine palmitoyltransferase (CPT) II deficiency has severe outcomes; patients typically die during the newborn period. We report a case of neonatal-onset CPT II deficiency with prolonged survival, exceeding 24 months. The patient was successfully treated by continuous hemodialysis (CHD), which enabled her to overcome repeated crises. We suggest that early intensive treatment, including CHD, is a key for prolonged survival in patients with neonatal-onset CPT II deficiency.

Keywords

• CPT II deficiency
• Hyperammonemia
• Continuous hemodialysis
• Prolonged survival
• Neonatal-onset