What exactly is phenylketonuria?

Genetic disease: Inability to metabolize phenylalanine properly results in build up of toxic by-products. Patients need perfect compliance with a carefully-planned diet to avoid extremely severe brain damage. Outcome is good nowadays. Good luck.

Gene mutation: When someone inherits a defective gene from two unaffected parents they can have pku. They can't make the enzyme phenyalanine (phe) hydroxylase.The dietary protein phe cannot be broken down & the phe level raises in the blood & urine. Untreated it will cause brain damage, short stature & seizures. Treatment includes avoiding phe containing foods, meds & regular followup.