Abstract
Neurometabolic disorders are most often seen in newborns and infants and have come to be recognized as an important group of disorders. Understanding diagnostic and therapeutic developments in neurometabolic disorders requires a concrete understanding of the classical principles of inborn errors of metabolism in order to provide key constructs for a fundamental understanding of this interesting category of disorders. The Saudi Arabian population has a comparatively high incidence of neurometabolic disorders, primarily due to consanguinity (with a high inbreeding coefficient factor) and large family sizes. The most frequently occurring group of disorders are lysosomal storage diseases, followed by organic acidemias; intellectual disability and cerebral palsy are the most commonly presented neurological features among Saudi Arabian children. This review summarizes the reports and studies of neurometabolic disorders prevalent in Saudi Arabia. It presents an overview of the types of disorders, current screening and diagnostic strategies, and prevalence of disease conditions in Saudi Arabia.
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