ABSTRACT
The concept “inborn error of metabolism” was introduced by Garrod to describe a block in a metabolic process, causing diseases that follow a familial pattern (17). Identification of intermediary metabolites from inborn errors of metabolism resulted in the discovery of enzyme defects leading to the presence in the body of metabolites not normally detected. A high level of such a metabolite indicates a block in the natural flow of metabolic processes, resulting in a disease — an inborn error of metabolism. Modulation of intermediary metabolites is a method of treatment for some inborn errors of metabolism.
