Nutritional Support in Inborn Errors of Metabolism

Inborn errors of metabolism are disorders caused by genetic defects that produce problems in normal metabolic processes. [1] Although each single gene disease is relatively rare, many more diseases have had their genetic basis elucidated because of recent research into the human genome. In a normal metabolic pathway, a substrate is converted into a product in a chemical reaction catalyzed by an enzyme, sometimes helped by a coenzyme. A genetic mutation producing a defective enzyme or cofactor is usually responsible for these diseases. Signs and symptoms of these disorders may appear due to the accumulation in blood or in other tissues of the substrate, to the production of toxic metabolites because of the use of alternative metabolic pathways, or to the lack of the final product. They result from variations in the structure and function of enzymes or other proteins. The aim of treatment is to correct the biochemical abnormality and may include the following