Question
I have a newborn with congenital hypothyroidism and phenylketonuria. A test came back positive. Can it be cured? Is it very serious? I’m very worried…
Answer
With modern medical advancements, it is treatable, and it is recommended to seek early treatment. Once the diagnosis is confirmed, early and aggressive treatment should be initiated, primarily through dietary therapy. The younger the age at which treatment begins, the better the outcome. Phenylketonuria is a common amino acid metabolism disorder caused by an enzyme defect in the phenylalanine metabolic pathway, leading to the inability of phenylalanine to be converted into tyrosine. Clinical manifestations mainly include intellectual disability, seizures, and decreased pigmentation.