Knowledge and experiences of healthcare workers in managing children with neurometabolic disorders in a developing country: a cross-sectional study.

This article evaluates the knowledge and experiences of healthcare workers in managing inborn errors of metabolism (IEMs), a group of inherited neurometabolic disorders, in a developing country setting. A cross-sectional study involving 93 pediatric healthcare professionals at a tertiary-care teaching hospital in India revealed that while awareness of IEMs and their autosomal recessive inheritance is growing, significant challenges remain, including limited knowledge, high costs, and restricted availability of metabolic and genetic diagnostic tests. Participants emphasized the importance of prenatal testing, newborn screening (NBS), and accessible treatment options such as dietary and enzyme replacement therapies, but many expressed discomfort in managing these disorders due to resource constraints. The study concludes that expanding routine NBS, reducing diagnostic costs, and enhancing educational initiatives are critical to improving diagnosis and management of IEMs in resource-limited settings.