Phenylketonuria

Phenylketonuria

• This genetic disorder is also abbreviated as PKU.
• This disorder usually manifests itself in infants through mental retardation and behavioral problems.  There is also the potential for seizures, developmental delay, and autism.
• This disorder can either be inherited or found in gene mutations. Specifically, mutations in the PAH gene cause low levels of “an enzyme called phenylalanine hydroxylase” (“Phenylketonuria” 1). This enzyme causes a person to be unable to digest phenylalanine.
• PKU is treated by “limiting the amount of protein in the diet. Treatment also includes eating low-protein foods and taking vitamins and minerals” (“Phenylketonuria” 1).
• PKU is typically tested for through a newborn screening test that is done shortly after birth through a blood sample.