The best treatment for phenylketonuria

Patient's question:

No

Doctor's answer:

Hello, Phenylketonuria (PKU) is a type of congenital metabolic disease, inherited in an autosomal recessive manner. It is caused by a chromosomal gene mutation leading to a deficiency of phenylalanine hydroxylase (PAH) in the liver, resulting in a metabolic disorder of phenylalanine (PA) and causing damage to the central nervous system.
Medical Advice: The best treatment is dietary control. It is essential to use low-protein foods. Before the age of one, low-phenylalanine formula should be used. Afterward, the diet should primarily consist of starch, vegetables, and fruits, while protein-rich foods should be consumed in moderation. This is because the disease impairs the proper metabolism of protein, and consuming protein-rich foods can become a burden. This dietary management should continue until full puberty development is complete. The earlier the treatment begins, the better.