High Incidence of Neonatal Inborn Errors of Metabolism in Bahrain Revealed by Tandem Mass Spectrometry

Background Inborn errors of metabolism (IEM) are individually rare but collectively common. If not detected early, they can cause severe morbidity and death. The study aimed to determine the incidence and types of IEM among healthy newborns in Bahrain. Methods Between January 2019 and May 2020, approximately 5,000 full-term asymptomatic newborns delivered at three major hospitals in Bahrain were enrolled. All newborns began breastfeeding and/or formula milk a few hours after birth. Dried blood spots were collected within 24–72 hours after birth and analyzed using tandem mass spectrometry (TMS. The initial positive screening results were confirmed through repeat testing, analyte ratio evaluation, and additional biochemical analyses. Results The initial metabolic lab tests were followed by further confirmatory tests. Nineteen of the screened newborns had true positive test results, resulting in an IEM incidence of 3.81 per 1,000 live births. Of the identified cases, only two (10.5%) were born to consanguineous marriages. Fatty acid oxidation disorders were the most prevalent (52.6%), followed by amino acid disorders (42.1%) and organic acidemias (5.3%). CPT-I deficiency and tyrosinemia were the most frequently observed conditions. Conclusion The study showed a high incidence of IEM in Bahrain, surpassing rates reported in other Arab and global populations. These findings underscore the urgent need to establish a national newborn screening program to enable early diagnosis and intervention, reducing the burden of metabolic disorders in the Bahraini population.