Answer:
Phenylketonuria
Step-by-step explanation:
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.