Table of Contents

HK J Paediatr (New Series)
Vol 25. No. 1, 2020

HK J Paediatr (New Series) 2020;25:53-57

Case Report

Classical Neonatal Propionic Acidaemia: Diagnostic and Management Pitfalls

TYS Lui, GPG Fung, KM Belaramani


Abstract

Propionic acidaemia is an inborn error of metabolism classified under the category of organic acidaemias. This disease is caused by the deficiency of propionyl-CoA carboxylase enzyme. Initial presentation can be subtle with subsequent rapid deterioration. Newborn Screening for inborn error of metabolism can provide an early diagnosis and thus prompt treatment can be given, preventing mortality and morbidity.

Keyword : Hyperammonaemia; Inborn error of metabolism; Proprionic acidaemia, newborn screening


Abstract in Chinese

 
 

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