pediatrics
Phenylketonuria (PKU)
Prognosis for PKU
Adequate treatment begun in the first days of life prevents the severe manifestations of the disease. However, mild cognitive deficits and mental health issues may still occur even with good dietary control. Treatment begun after 2 to 3 years may be effective only in controlling the extreme hyperactivity and intractable seizures. Children born to mothers with poorly controlled PKU (ie, they have high phenylalanine levels) during pregnancy are at high risk of microcephaly and developmental deficit. 