Question

What to Do If a Newborn Has Elevated Phenylketonuria?

Answer

Phenylketonuria is a genetic metabolic disorder where patients, due to a lack of phenylalanine hydroxylase, experience abnormal metabolism of phenylalanine, leading to the accumulation of phenylpyruvate and causing a series of symptoms. Treatment methods include restricting the intake of phenylalanine, using special formula milk or protein powder, and medication therapy.