CHAPTER 14 – Inborn Errors of Metabolism

Recent dramatic advances in genetics at the laboratory and clinical levels explore opportunities for understanding and promoting health and decreasing the morbidity and mortality associated with metabolic disorders. The treatment of inborn errors of metabolism is, in fact, fairly new to medicine and nutrition. Although inborn errors of metabolism are individually rare, as a group they have a significant impact on the health care system. The backbone of an effective management program for inborn errors of metabolism is an effective newborn screening program. The most frequently identified disorders are those in which the absent or defective protein serves an enzymatic function. This diverse group of disorders responds to nutritional therapy intervention and is discussed in this chapter. Progress in the diagnosis and treatment of genetic diseases is fast paced. The goal for treatment of all disorders is to provide normal biochemical plasma concentrations. There is hope that further progress in the understanding of genetic disorders can promote earlier and more effective treatment and prevent the symptomatic sequelae of metabolic disorders.