Novel Mutations in the CPT1A Gene Identified in the Patient Presenting Jaundice as the First Manifestation of Carnitine Palmitoyltransferase 1A Deficiency

  • Choi, Jong Sub (Department of Pediatrics, Seoul National University College of Medicine) ;
  • Yoo, Hyeoh Won (Department of Pediatrics, Seoul National University College of Medicine) ;
  • Lee, Kyung Jae (Department of Pediatrics, Seoul National University College of Medicine) ;
  • Ko, Jung Min (Department of Pediatrics, Seoul National University College of Medicine) ;
  • Moon, Jin Soo (Department of Pediatrics, Seoul National University College of Medicine) ;
  • Ko, Jae Sung (Department of Pediatrics, Seoul National University College of Medicine)
  • Received : 2015.08.03
  • Accepted : 2015.10.04
  • Published : 2016.03.30


Carnitine palmitoyltransferase 1A (CPT1A) is an enzyme functioning in mitochondrial fatty acid oxidation (FAO) of the liver. Patients with CPT1A deficiency have impaired mitochondrial FAO and display hypoketotic hypoglycemia and hepatic encephalopathy as typical manifestations. In this report, we present a case of CPT1A deficiency presenting jaundice as the first manifestation. A 1.9 years old boy showed jaundice and elevated levels of free and total carnitine were observed. From direct sequencing analysis of CPT1A, two novel mutations, c.1163+1G>A and c.1393G>A (p.Gly465Arg), were identified. At the age of 2.2 years, hypoglycemia, tachycardia, and altered mental status developed just after cranioplasty for craniosynostosis. High glucose infusion rate was required for recovery of his vital signs and mentality. Diet rich in high carbohydrate, low fat and inclusion of medium chain triglyceride oil resulted in improvement in cholestatic hepatitis and since then the boy has shown normal growth velocity and developmental milestones to date.



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