How to treat phenylketonuria in children

Early screening and strict dietary control can achieve good treatment results for pediatric phenylketonuria and prevent the occurrence of intellectual development disorders. Children diagnosed after screening should strictly follow the doctor's instructions to follow a low-phenylalanine diet, supplemented with drug treatment and regular monitoring when necessary.

1) Low phenylalanine diet control

Phenylketonuria is mainly caused by phenylalanine metabolism disorder in the body. Excessive accumulation of phenylalanine may cause brain damage, so dietary control is the core of treatment. Everyday foods such as meat, fish, eggs, and milk are rich in phenylalanine, and children should try to avoid consuming them. Nutrients that need to be supplemented, such as protein, can be replaced by special medical foods (such as low-phenylalanine milk powder and protein powder). During the implementation process, it is recommended that parents cooperate with professional nutritionists to develop personalized diet plans based on the child's age, weight, and blood phenylalanine concentration, and review and adjust the plan every 3 months or as directed by the doctor.

2) Drugs and enzyme replacement therapy

Some children may benefit from medication, such as tetrahydrobiopterin (BH4) supplements, which can help lower the concentration of phenylalanine in the blood, but because the drug may not be suitable for every patient, it is necessary to determine whether your child is sensitive to BH4 before taking the drug. Enzyme replacement therapy (such as injection of phenylalanine ammonia lyase) is a treatment method that is gradually being promoted and may help some patients who cannot fully control their condition through diet, and it needs to be carried out under medical supervision.

3) Regular monitoring and early intervention

Regular monitoring of blood phenylalanine concentration is essential to maintain the treatment effect. Parents need to take their children to regular follow-up visits to assess metabolic levels and physical health. After the diagnosis of newborns, early intervention is required to avoid the intake of high-phenylalanine foods to prevent irreversible intellectual damage and developmental delays. Early education and cognitive training should be gradually added in early childhood to help improve cognitive abilities.

If phenylketonuria is screened early and receives standardized treatment, the prognosis is very good. During the process of diet control and treatment, parents need to maintain a high degree of cooperation, continue to learn relevant knowledge, and give their children lasting support and care, so as to achieve the best treatment effect.