Phenylketonuria (pku) is an autosomal recessive genetic disease, mainly the abnormal metabolism of phenylalanine. Due to the mutation of phenylalanine hydroxylase gene in vivo, the activity of phenylalanine hydroxylase in vivo is weakened or disappeared, which leads to abnormal metabolism of phenylalanine, accumulation of phenylalanine and its metabolites in vivo and irreversible damage to nervous system.

Children are mainly characterized by mental retardation, seizures, urine odor, yellowing, dyskinesia and other symptoms. Therefore, these children should use some special foods to reduce the concentration of phenylalanine in blood and prevent damage to the nervous system. Try to avoid food from protein in your diet.

There are two main types of PKU: one is the increase of phenylalanine concentration caused by phenylalanine hydroxylase, which requires special diet treatment. The other is the increase of blood phenylalanine due to the lack of phenylalanine hydroxylase coenzyme, which is called BH4D, and this part needs drug treatment.

It is suggested to go to a regular hospital for medical treatment as soon as the suspected symptoms appear, so as to avoid irreversible damage to intelligence and nerves caused by delaying the illness.