ABSTRACT
The term “inborn error of metabolism” (IEM) was introduced by Sir Archibald Garrod following his pioneering work at the end of the nineteenth and in the early part of the twentieth century on the inheritance of alkaptonuria, albinism, cystinuria, and pentosuria in affected families. Garrod postulated correctly that such disorders arose from the absence of a particular enzyme in a metabolic pathway and opened the way for a field of study leading to the development of molecular biology.
