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.