Phenylketonuria, Neonatal Screening Avoids Neurological Damage but Node Continuity Cures Remain.
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Neonatal screening plays a key role in phenylketonuria because it allows you to diagnose the disease before symptoms appear and then intervene well in advance. Unfortunately, or fortunately depending on how you look at the disease, the symptoms are not early and are not present at birth. The accumulation of phenylalanine [...]
In Italy, phenylketonuria (Pku) is a rare pathology of genetic origin that records about 100 new diagnoses per year. In the most serious cases, prompt intervention is necessary from the first days of life. Thanks to the compulsory neonatal screening in the third day, it is possible to detect early levels of phenylalanine and set a diet with reduced protein intake, preventing neurological damage and guaranteeing patients an expectation and qualit…
Calabria News
In Italy, on average, one every 5 thousand born is affected by phenylketonuria (Pku), a rare metabolic pathology of genetic origin with recessive autosomal transmission. It is caused by a defect of the Pah gene, which compromises the production of the enzyme phenylalanine hydroxylase. This prevents the proper disposal of phenylalanine, an amino acid present in protein foods, which [...] L'articolo Fenilketonuria, neonatal screening avoids neurol…
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Rec News | Lontani dal mainstream(Adnkronos) - In Italy, on average, one every 5 thousand is born with phenylketonuria (Pku), a rare metabolic pathology of transmission genetic origin
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