What Is

INHERITED METABOLIC DISORDER

Inherited Metabolic Disorders, also called Inborn Errors of Metabolism, are a large group of genetic diseases caused by malfunctioning of a specific metabolic pathway.

A metabolic pathway is a number of processes, by mean of a sequence of chemical reactions, which happens in human body on products of dietary or endogenous origin with the aim of make its available or avoid their accumulation.

These metabolic processes are fundamental to produce essential compounds, to remove toxic compounds from body organs or to produce energy inside the cells. Almost all these reaction are possible by means of the activity of enzymes (usually proteins) which often needs acofactor (vitamins, oligoelements).