Inborn errors of metabolism (IEMs) comprise a group of inherited diseases that can have devastating consequences and cause irreversible damage to different body systems and even lead to death. Newborn screening helps in the presymptomatic diagnosis of many medical disorders including IEMs. Early diagnosis and management of IEMs helps reduce morbidity and mortality.

This study aimed to estimate the prevalence of IEMs among at-risk children and contribute toward early diagnosis and management in order to minimize morbidity and mortality.

This prospective study was conducted at the Pediatrics and Neonatology Department, Sohag University Hospital, Egypt. The study enrolled 308 participants suspected of having IEMs. Cases were included based on the presence of any of the following: unexplained convulsions, persistent metabolic acidosis, persistent hypoglycemia, disturbed consciousness, delayed milestones, or family history of previous sibling death with IEMs or sibling death with a history suggestive of IEMs. All participants in the study were subjected to metabolic screening by tandem mass spectrometry (MS/MS).

Out of 308 neonates, 93 (30.2%) were diagnosed with IEMs. The most common diagnosis was phenylketonuria, followed by glutaric aciduria type 1 and maple syrup urine disease (43%, 19.4%, and 14%, respectively). Five patients had Canavan disease, four had medium-chain acyl CoA dehydrogenase deficiency, three had congenital lactic acidosis, two had methylmalonic acidemia, and two had primary carnitine deficiency. Propionic acidemia, isovaleric acidemia, homocystinuria, short-chain acyl CoA dehydrogenase deficiency, B-ketothiolase deficiency, and ketone body utilization defect were diagnosed in one patient each. Most patients improved (73.1%) following proper specific management.

We recommend newborn screening for IEMs using MS/MS, which may help with the early diagnosis and management of this group of disorders.