Inborn Errors of Metabolism

Synonyms

Congenital metabolic diseases; Inherited metabolic diseases

Definition

Inborn errors of metabolism are a very large group of genetic or inherited disorders, often due to single-gene defects, that impact the typical function of specific and identified biochemical processes. It is estimated that they occur in 70/10,000 live births. Metabolism is the act of synthesizing or breaking down compounds and involves biochemical action. When there is a congenital absence of an enzyme or other biochemical impediments to breakdown of cellular by-products or creation of necessary molecules, the intended cellular functions cannot take place resulting in illness or cellular damage. Accumulation of toxic substance(s) may occur. An individual may be unable to create an essential compound. One example of an inborn error of metabolism is phenylketonuria or PKU. This is an autosomal recessive genetic disorder characterized by the absence of an enzyme (phenylalanine hydroxylase) that forms the...