Think metabolic

Abstract

Inherited metabolic diseases (IMDs) are a diverse group of genetic disorders that disrupt normal metabolism. While metabolic pathways can seem complex, their fundamental principles are simple. Disruption of a pathway, most often from deficiencies in enzymes or transport proteins, leads to the accumulation of molecules before the block, and deficiency of molecules after the block, both of which can produce disease. Traditionally, these conditions were thought of as diseases of childhood. However, a growing proportion of patients are now surviving into adulthood because of improved medical care, and we are increasingly recognizing attenuated forms of disease that only present in later life. Adults with many common presentations can have an underlying IMD, many of which are treatable. Therefore, it is important to think of these conditions. We describe a number of situations where an IMD should be part of the differential diagnosis and local metabolic consultation might be useful.