How to treat phenylketonuria in children

The primary treatment for phenylketonuria in children is to control the intake of phenylalanine in the diet. Through strict low-phenylalanine dietary management, toxic levels of phenylalanine can be avoided from accumulating in the body, thereby protecting the child's nervous system development.

Phenylketonuria is a genetic metabolic disease. Due to the lack of phenylalanine hydroxylase in the body, phenylalanine cannot be metabolized normally to tyrosine, resulting in the accumulation of phenylalanine in the body. The core of treatment is to adjust the diet from infancy, strictly control the intake of protein containing phenylalanine, such as limiting high-protein foods such as milk, eggs, and meat, and using special medical formula milk powder and replacing low-protein foods as the main source of nutrition. If the diagnosis is late or the diet is not strictly controlled, neurological damage such as mental retardation and behavioral problems may occur. For patients with certain special genotypes, dihydrobiopterin (BH4) supplementation therapy can be used to further reduce the level of phenylalanine in the body by activating the residual phenylalanine hydroxylase function. In more severe cases or when traditional treatment is ineffective, it may be necessary to explore liver transplantation to replace the defective enzyme function. The choice of treatment method needs to be formulated under the guidance of a professional doctor based on the child's condition, genotype, and blood phenylalanine level.

Phenylketonuria is a genetic metabolic disease. Due to the lack of phenylalanine hydroxylase in the body, phenylalanine cannot be metabolized normally to tyrosine, resulting in the accumulation of phenylalanine in the body. The core of treatment is to adjust the diet from infancy, strictly control the intake of protein containing phenylalanine, such as limiting high-protein foods such as milk, eggs, and meat, and using special medical formula milk powder and replacing low-protein foods as the main source of nutrition. If the diagnosis is late or the diet is not strictly controlled, neurological damage such as mental retardation and behavioral problems may occur. For patients with certain special genotypes, dihydrobiopterin (BH4) supplementation therapy can be used to further reduce the level of phenylalanine in the body by activating the residual phenylalanine hydroxylase function. In more severe cases or when traditional treatment is ineffective, it may be necessary to explore liver transplantation to replace the defective enzyme function. The choice of treatment method needs to be formulated under the guidance of a professional doctor based on the child's condition, genotype, and blood phenylalanine level.

In daily management, blood phenylalanine levels should be strictly monitored regularly, especially for children in the growth and development period, and the diet plan should be adjusted in time according to their growth progress. Parents need to learn and master the preparation skills of a low-phenylalanine diet to ensure that the nutritional needs of children are met. Early detection and persistent treatment can allow children with phenylketonuria to live a healthy life. Families with a family history of phenylketonuria are advised to actively screen for the disease during prenatal examinations to increase the possibility of early diagnosis.