What genetic condition is often screened for in newborns to prevent severe neurological damage?

Phenylketonuria (PKU) is a genetic condition that is commonly screened for in newborns due to its potential to cause severe neurological damage if left untreated. PKU results from a deficiency in the enzyme phenylalanine hydroxylase, which is necessary for the metabolism of the amino acid phenylalanine. When this condition is not detected early and dietary restrictions are not implemented, phenylalanine can build up in the blood, leading to intellectual disabilities and other serious health problems.

Newborn screening programs routinely test for PKU to ensure that affected infants can be identified promptly. If diagnosed early, a diet low in phenylalanine can prevent the neurological damage and allow for normal development.

In contrast, while cystic fibrosis, sickle cell anemia, and Down syndrome are also important genetic conditions to identify, they do not pose the same immediate threat of severe neurological damage that PKU does if left untreated. Each of these conditions has its own implications and complications but the critical nature of rapid intervention to prevent neurological damage specifically highlights why PKU screening holds such significance in newborn care.