Inborn Metabolic Deseases

Inborn Metabolic Diseases, called also 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.

The Newborn Screening

Newborn screening is a public health program of screening in infants shortly after birth for a list of conditions that are treatable, but not clinically evident in the newborn period.

Some of the conditions included in newborn screening programs are only detectable after irreversible damage has been done, in some cases sudden death is the first manifestation of a disease.


Guidelines for Extended Newborn Screening and diagnistic confirmation.

Technical reports

Techincal report on Newborn Screening programs in Italy.

External Quality Control

External Quality Control Program for the newborn screening for HPA, CH, and CF.

Laboratori di Screening

List of all laboratories for Newborn Screening in Italy.

Diagnostic laboratories

List of diagnostic laboratories for Extended Newbord Screening.

Clinic center

List of Clinic center for Extended Newbord Screeening.

Training and other news