pediatrics
Introduction to Inherited Disorders of Metabolism
Introduction
Most inherited disorders of metabolism (also called inborn errors of metabolism) are caused by mutations in genes that code for enzymes; enzyme deficiency or inactivity leads to Accumulation of substrate precursors or metabolitesor Deficiencies of the enzyme’s products Hundreds of disorders exist, and although most inherited disorders of metabolism are extremely rare individually, collectively they are not rare. Inherited metabolic disorders are typically grouped by the affected substrate, for example: Overview of Amino Acid and Organic Acid Metabolism Disorders None Overview of Carbohydrate Metabolism Disorders None Overview of Fatty Acid and Glycerol Metabolism Disorders None Overview of Purine and Pyrimidine Metabolism Disorders None All states in the US routinely do Screening Tests for Newborns of all newborns for specific inherited disorders of metabolism and other conditions, including Metabolic defects that primarily cause disease in adults (eg, Gout , 