Abstract
In multiple countries, newborn screening (NBS) initiatives have provided prevalence insights for inborn errors of metabolism (IEM), but Pakistan lacks such data. Few reports exist on IEM in Pakistan, and none offer comprehensive population-based prevalence information. In response to this deficiency, our study surveyed specialized schools and care centers in Punjab (Faisalabad, Lahore), Pakistan, focused on children with intellectual disabilities (ID). Information from 409 ID children (n = 212 from Faisalabad and n = 197 from Lahore) suspected of IEM was collected. Our objective was to uncover biochemical and molecular underpinnings, ultimately revealing prevalence rates for Punjab, Pakistan. This report details our challenges engaging with affected children, parents, and school staff, emphasizing the potential of such efforts, despite resource limitations, to establish an IEM newborn screening program in Pakistan. By developing NBS program in Pakistan, it will help to minimize the burden of such IEM from the society.
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