Patient's question:
What is the disease of PKU? Where is the best place to treat it? How is it generally treated?Doctor's answer:
There is no drug treatment for this disease; only a low phenylalanine diet is available. Phenylketonuria (PKU) is a common autosomal recessive genetic disease primarily characterized by abnormal phenylalanine metabolism. Due to mutations in the phenylalanine hydroxylase gene within the body, phenylalanine hydroxylase activity is weakened or lost, leading to abnormal absorption and metabolism of phenylalanine by the body. This results in the accumulation of phenylalanine and its metabolites in the body, causing severe damage to the nervous system.