Inherited Metabolic Disorders in Adults: A view from Saudi Arabia

Abstract

The incidence of inherited metabolic disorders (IMD) in Saudi Arabia is one of the highest in the world. Early diagnosis and advances in the treatment of these diseases have led to improved survival of these patients resulting in a rapidly growing number of adults with IMD. This is the first report from a single tertiary care center, on the experience of managing a large cohort of adult patients with a wide range of IMD. We describe the common IMD seen in adult patients in Saudi Arabia, highlighting the variations from the Caucasian populations, and unique challenges in providing care to these adults. We mention the pitfalls causing the delay in the diagnosis particularly in cases of late-onset IMD in adults. We also discuss some unusual complications seen in adult patients during the course of their disease. We describe the role of genetic prevention services in Saudi Arabia and the importance of research in this field.