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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 - Pediatr Gastroenterol Hepatol Nutr (2016)

Bottom Line: From direct sequencing analysis of CPT1A, two novel mutations, c.1163+1G>A and c.1393G>A (p.Gly465Arg), were identified.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.

View Article: PubMed Central - PubMed

Affiliation: Department of Pediatrics, Seoul National University College of Medicine, Seoul, Korea.

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.

No MeSH data available.


Related in: MedlinePlus

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

Mentions: With diet management, hyperbilirubinemia and elevated liver enzymes were progressively improved (total bilirubin, 1.5 mg/dL; AST, 37 IU/L; ALT 22 IU/L) (Fig. 4). One month after diagnosis, cranioplasty for scaphocephaly was performed. During the post-operation care, recurrent hypoglycemic events with desaturation and tachycardia occurred even though glucose solution was continuously infused during that time (glucose infusion rate, 3.3 mg/kg/min). Recovery of vital signs and mental status was achieved after increased glucose infusion rate with 10% dextrose solution (glucose infusion rate, 5.5 mg/kg/min).


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 - Pediatr Gastroenterol Hepatol Nutr (2016)

The course of clinical events and associated laboratory findings is shown as below. AST: aspartate aminotransferase, ALT: alanine transaminase.
© Copyright Policy - open-access
Related In: Results  -  Collection

License
Show All Figures
getmorefigures.php?uid=PMC4821986&req=5

Figure 4: The course of clinical events and associated laboratory findings is shown as below. AST: aspartate aminotransferase, ALT: alanine transaminase.
Mentions: With diet management, hyperbilirubinemia and elevated liver enzymes were progressively improved (total bilirubin, 1.5 mg/dL; AST, 37 IU/L; ALT 22 IU/L) (Fig. 4). One month after diagnosis, cranioplasty for scaphocephaly was performed. During the post-operation care, recurrent hypoglycemic events with desaturation and tachycardia occurred even though glucose solution was continuously infused during that time (glucose infusion rate, 3.3 mg/kg/min). Recovery of vital signs and mental status was achieved after increased glucose infusion rate with 10% dextrose solution (glucose infusion rate, 5.5 mg/kg/min).

Bottom Line: From direct sequencing analysis of CPT1A, two novel mutations, c.1163+1G>A and c.1393G>A (p.Gly465Arg), were identified.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.

View Article: PubMed Central - PubMed

Affiliation: Department of Pediatrics, Seoul National University College of Medicine, Seoul, Korea.

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.

No MeSH data available.


Related in: MedlinePlus