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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

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 pr...

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Bibliografiske detaljer
Udgivet i:Pediatr Gastroenterol Hepatol Nutr
Main Authors: Choi, Jong Sub, Yoo, Hyeoh Won, Lee, Kyung Jae, Ko, Jung Min, Moon, Jin Soo, Ko, Jae Sung
Format: Artigo
Sprog:Inglês
Udgivet: The Korean Society of Pediatric Gastroenterology, Hepatology and Nutrition 2016
Fag:
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC4821986/
https://ncbi.nlm.nih.gov/pubmed/27066452
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.5223/pghn.2016.19.1.76
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