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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.
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.
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.