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

Anasufiza Habib¹*, Nor Azimah Abdul Azize², Sheue Feng Siew³, Zabedah Mohd Yunus¹

1. Biochemistry Unit, Specialised Diagnostic Centre, Institute for Medical Research, National Institutes of Health, Ministry of Health Malaysia, Jalan Pahang, 50588 Kuala Lumpur, Malaysia

2. Molecular Diagnostics Unit, Specialised Diagnostic Centre, Institute for Medical Research, National Institutes of Health, Ministry of Health Malaysia, Jalan Pahang, 50588 Kuala Lumpur, Malaysia

3. Department of Forensic Medicine, Kuala Lumpur Hospital, Ministry of Health Malaysia, Jalan Pahang, 50588 Kuala Lumpur, Malaysia

*Corresponding author: Anasufiza Habib, Biochemistry Unit, Specialised Diagnostic Centre, Institute for Medical Research, National Institutes of Health, Ministry of Health Malaysia, Jalan Pahang, 50588 Kuala Lumpur, Malaysia, This email address is being protected from spambots. You need JavaScript enabled to view it.

CITATION: Habib A, Abdul Azize NA, Siew SF, Mohd Yunus Z. Death due to inborn errors of metabolism in children less than 5 years old in Malaysia. International Medical Research Journal. 2021 Jun;7(1):6–15.

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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. 

KEYWORDS: Dried blood spot (DBS), inborn errors of metabolism (IEM), sudden death, tandem mass spectrometry (TMS)