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DOI: 10.1055/s-0042-1747933
Prolonged Cholestatic Jaundice Associated with Carnitine Palmitoyltransferase IA Deficiency
Abstract
Carnitine palmitoyltransferase 1A (CPT1A) deficiency is a type of fatty acid oxidation disorder in which long chain fatty acids cannot be transported into mitochondria for further processing and storage in our body. Typically, the patients present with lethargy, hypoglycemia, and raised serum transaminase levels before 2 years of age. Cholestatic jaundice as manifestation of this deficiency has been reported rarely; here, we report an adolescent male with CPT1A deficiency who developed prolonged cholestatic jaundice following a febrile illness.
Publication History
Received: 02 June 2021
Accepted: 07 March 2022
Article published online:
02 May 2022
© 2022. Thieme. All rights reserved.
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