By: Devun Pontrelli
Without the enzyme necessary to process phenylalanine, a dangerous buildup can develop when a person with PKU eats foods that are high in protein. This can eventually lead to serious health problems.
How PKU is inheredited
For a child to inherit PKU, both the mother and father must have and pass on the defective gene. This pattern of inheritance is called autosomal recessive. It's possible for a parent to have the defective gene, but not have the disease. This is called being a carrier. If only one parent has the PKU gene, there's no risk of passing PKU to a child, but it is possible for the child to be a carrier. Most often, PKU is passed to children by two parents who are carriers of the disorder, but don't know it.
Newborn blood testing identifies almost all cases of phenylketonuria. All 50 states in the United States require newborns to be screened for PKU. Many other countries also routinely screen infants for PKU. A PKU test is done a day or two after the baby's birth. The test isn't done before the baby is 24 hours old or before the baby has ingested some protein in the diet to ensure accurate results.
Symptoms Of PKU if not Treated
Treatment for patients with PKU disorder
The Food and Drug Administration (FDA) has approved the drug sapropterin (Kuvan) for the treatment of PKU. It works by increasing your tolerance to phenylalanine. The drug is for use in combination with a PKU diet. But it doesn't work for everyone with PKU. In approving sapropterin, the FDA directed that studies continue because there are no long-term studies on the drug's efficacy and long-term safety.
Studies of PKU
Thank you for reading my explanation on the disorder, PKU
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