Journal of Clinical Case Reports

Department of Paediatric, Jalan Genuang, 85000 Segamat, Johor, Malaysia

Publications

• Case Report   
  Identification of Novel Mutations in Cpt1A Gene in a Patient with Carnitine Palmitoyltransferase IA Deficiency Presenting with Cholestatic Jaundice
  Author(s): Saraswathy Apparow*, Noornatisha Salleh, Azzah Hana Abu Yamin, Nor Azimah Azize, Ong Fen Ni, Mohd Khairul Nizam Mohd Khalid, Yusnita Yakob and Anasufiza Habib
  
  Background: Carnitine Palmitoyltransferase IA (CPT IA; MIM #255120) deficiency is a rare autosomal recessive inherited disorder of mitochondrial fatty acid oxidation. Patients experience a rapid onset of symptoms which include “Reye-like” hepatic encephalopathy precipitated by fasting or any intercurrent illness, followed by hepatomegaly and hypoketotic hypoglycaemia. Objective: To perform clinical, biochemical and genetic characterization of a patient with CPT1A deficiency. Designs and methods: We present a case of a patient with unresolved cholestatic jaundice, failure to thrive and gross developmental delay. Physical examination showed moderate hepatomegaly with mild hypotonia. Results: Basic laboratory investigations showed moderate transaminitis with cholestasis and compens.. Read More»
  DOI: 10.37421/2165-7920.2024.14.1589

  Abstract HTML PDF