Inborn Errors of Metabolism

Abstract

Inborn errors of metabolism (IEMs) are a set of relatively uncommon complicated medical conditions involving abnormalities in the complex biochemical and metabolic pathways of the human body system. They involve great complexity of the underlying pathophysiology, biochemical workup, and analysis and have complicated therapeutic options for management. These children are often sick with significant complications and high rates of morbidity and mortality. The understanding of these complex disorders requires special in-depth training and experience. Most primary care physicians are less familiar with these disease conditions and therefore less willing to deal with them because of the complexity involved. There are metabolic specialists available, mostly in large medical centers, with expertise to deal with these intricate complicated issues. Primary care physicians and pediatricians usually are the first point of contact for most of these newborns, children, or adolescents, however. Therefore, it is important that primary care physicians become comfortable in being able to recognize early signs and symptoms, be able to initiate appropriate diagnostic and therapeutic interventions, and be able to make appropriate referrals. This chapter summarizes the key issues basic to understanding IEMs.