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. 2025 Apr 2:12:30502225251312056.
doi: 10.1177/30502225251312056. eCollection 2025 Jan-Dec.

Early Mortalities From Inborn Errors of Metabolism Detected By Selective Screening in Malaysia

Anasufiza Habib  1   2 , Nur Aisyah Abdul Malik  1   2 , Azzah Hana Abu Yamin  1   2 , Salina Abdul Rahman  2   3 , Saraswathy Apparow  1   2 , Wan Rozita Wan Mahiyuddin  2   3 , Yusnita Yakob  1   2 , Ngu Lock Hock  2   4
Affiliations

Early Mortalities From Inborn Errors of Metabolism Detected By Selective Screening in Malaysia

Anasufiza Habib et al. Sage Open Pediatr. .

Abstract

Background. Newborn screening in Malaysia includes congenital hypothyroidism and glucose-6-phosphate dehydrogenase deficiency. Screening for inborn errors of metabolism (IEM) is typically offered only for symptomatic patients. Objective. This study aimed to review the clinical and biochemical characteristics of children who experienced early mortality because of IEM. Methods. Malaysian children who were diagnosed with IEM and died before 5 years of age, were identified through selective screening of 36 467 at-risk patients between January 2015 and December 2021. Results. Thirty-six cases were detected. The mortality rate of children under 5 years diagnosed with IEM was 1.4 per 10 000 population. Clinical symptoms overlapped across the different IEM groups, and notably, similar organic compounds were found in different types of IEM. Conclusions. The mortality rate due to IEM is significant in Malaysia and most mortalities occurring during the neonatal period.

Keywords: children; inborn errors of metabolism (IEM); mortality; newborn screening; tandem mass spectrometry.

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Conflict of interest statement

The author(s) declared no potential conflicts of interest with respect to the research, authorship, and/or publication of this article.

Figures

Figure 1.
Figure 1.
Subgroups of IEM that caused early mortality between 2015 and 2021. Abbreviations: OA, organic acid disorder; UCD, urea cycle disorder; FAOD, fatty acid oxidation disorder; CLA, congenital lactic acidosis.
Figure 2.
Figure 2.
7-year average early mortality rate due to IEM by state (per 10 000 at-risk population) in Malaysia.
Figure 3.
Figure 3.
Distribution of clinical symptoms in patients with IEM who experienced early mortality.
Figure 4.
Figure 4.
Distribution of clinical symptoms among patients with organic aciduria, fatty acid oxidation disorder, urea cycle defect and congenital lactic acidosis.
See this image and copyright information in PMC

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