Pediatr Gastroenterol Hepatol Nutr.  2016 Mar;19(1):76-81. 10.5223/pghn.2016.19.1.76.

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

• Choi JS
• Yoo HW
• Lee KJ
• Ko JM
• Moon JS
• Ko JS

• KMID: 2160479
• DOI: http://doi.org/10.5223/pghn.2016.19.1.76

Abstract

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.

Keyword

Human carnitine palmitoyltransferase 1A; Mutation; Jaundice; Hypoglycemia; Carnitine

MeSH Terms

Carnitine O-Palmitoyltransferase*
Carnitine*
Craniosynostoses
Diet
Glucose
Hepatic Encephalopathy
Hepatitis
Humans
Hypoglycemia
Jaundice*
Liver
Male
Tachycardia
Triglycerides
Vital Signs
Carnitine
Carnitine O-Palmitoyltransferase
Glucose

Figure

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  Fig. 1 Hepatomegaly and nephromegaly was observed onin ultrasonographic examinationy performed at age 1.9 years.

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  Fig. 2 Three-dimensional reconstruction images of computed tomography show early closure with sclerotic change of the sagittal suture and scaphocephaly.

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  Fig. 3 Partial genomic DNA sequences of CPT1A for the patient are shown. The patient is a compound heterozygote with two novel mutations, c.1163+1G>A and c.1393G> A (p.Gly465Arg).

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  Fig. 4 The course of clinical events and associated laboratory findings is shown as below. AST: aspartate aminotransferase, ALT: alanine transaminase.

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