Phenylketonuria (PKU) is an inherited metabolic dysfunction. People with this situation lack a needed enzyme that breaks down phenylalanine, an amino acid discovered in lots of meals. Consequently, phenylalanine accumulates within the blood and may trigger mental incapacity and different severe well being issues if left untreated.
Early detection and remedy are important for stopping the irreversible results of phenylalanine buildup. New child screening packages worldwide determine infants with PKU shortly after delivery, permitting immediate intervention by means of a specialised food regimen low in phenylalanine. This dietary administration, maintained all through life, allows people with PKU to dwell wholesome lives and attain their full mental potential. The historic improvement of PKU screening and dietary remedy represents a serious success in preventive medication.
