Phenylalanine hydroxylase is an enzyme that participates in the reaction to form tyrosine from phenylalanine. What problem would people have if they do not have this enzyme?
The mentioned chemical controls brain chemical- so mood and emotion. Without it, there may be behavioral issues, being slow-mental disorders, microcephaly, or seizures.
Defect in phenylalanine hydroxylase leads to high accumulation of phenylalanine in the blood. This metabolic disorder leads to the disease phenylketonuria (PKU). In phenylketonuria the catalytic domain of phenylalanine hydroxylase has a missense mutation. PKU is a genetic disease and newborns are regularly screened for PKU. Patients with PKU have diets that are low in phenylalanine. Early diagnosis and strict diet can help to prolong a healthy life of PKU patients.
