Question

What are the symptoms of Phenylketonuria? None of my family members have the disease, but I am worried that I might get it. Can the symptoms of Phenylketonuria be observed in a one-and-a-half-month-old baby?

Answer

Patients with Phenylketonuria may experience growth and development delays, primarily manifested as intellectual development retardation. By the age of 4 to 9 months, infants may show an IQ lower than that of normal infants. Severe cases may have an IQ below 50 and significant language development disorders. Additionally, signs of brain development disorders may occur, such as recurrent seizures, muscle tension, and abnormal behavior. As age progresses, symptoms may diminish.