Death due to inborn errors of metabolism in children less than 5 years old in Malaysia

Abstract

This study was conducted to investigate common inborn errors of metabolism (IEM) as the cause of sudden unexplained death in Malaysian children less than 5 years old using tandem mass spectrometry (TMS) as the screening platform. A two-year cross-sectional study from December 2012 to December 2014 were conducted in five government hospitals in Malaysia and Institute for Medical Research Kuala Lumpur. A total of 138 cases were enrolled into the study after satisfying the inclusion and exclusion criteria. In general, 138 dried blood spot, 59 plasma, 59 whole blood and 4 urine samples were received. The laboratory results were analysed by Microsoft excel and SPSS version 21. All statistical analysis was considered significant when p<.05. We detected mutations in two cases of IEM by molecular analysis: urea cycle defect (Ornithine transcarbamylase deficiency) and mitochondrial trifunctional protein (MTP) deficiency. Appropriate cut-offs for post-mortem samples allow detection of common IEM in children with sudden death. In combination with molecular genetics accurate post-mortem diagnosis for IEM can be made. Screening by TMS for common IEM should be carried out for all children presented with sudden death.