Italian Society for the study of Hereditary Metabolic
Diseases and Newborn Screening
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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.
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.