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

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.