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SIMMESN

Italian Society for the Study of Inherited Metabolic Diseases and Neonatal Screening

The Society currently has 478 registered members

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Inherited Metabolic Disorders

Inherited metabolic disorders, also known as inborn errors of metabolism, are a category of genetic diseases caused by the impaired function of specific metabolic pathways.

A metabolic pathway is a sequence of biochemical transformations that normally occur within the human body. Through these sequential biochemical reactions, food-derived products or pre-existing compounds are either converted into usable forms or their accumulation is prevented.

More about IMD

The Neonatal Screening

Neonatal screening is widely recognised as a biochemical test that enables the identification of various congenital disorders in newborns. If these conditions are not diagnosed and treated promptly, they can lead to cognitive and/or physical development delays, severe permanent damage, and, in some cases, even death.

More about screening

Information guide for parents on Neonatal Screening

SIMMESN and the entire Board of Directors have supported and encouraged the creation of this booklet, confident that it will serve as a valuable resource for all parents.

This booklet does not replace the advice of your doctor or paediatrician, but we hope it will provide helpful support in the event that your child is called back for a positive result in the Extended Neonatal Screening.