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Answers to common questions in children with phenylketonuria

maternal pku

What is phenylketonuria?

Phenylketonuria (PKU) is a common amino maternal pku acid metabolic disease, which is autosomal recessive inheritance. Due to the enzyme defect in phenylalanine (PHE) metabolic pathway, phenylalanine and its bypass metabolites accumulate in the body and cannot complete normal metabolism, resulting in children's intellectual impairment. Early detection can be made by early examination. The method is: collect a drop of heel blood 72 hours after the birth of the newborn and send it to the laboratory for "neonatal disease screening".

2. What is the work performance of phenylketonuria?

Most children are normal at birth and eat gradually 3-4 months after typical manifestations such as white skin, yellow hair, intellectual degradation and special body and urine odor. With the growth of age, intellectual impairment becomes more and more obvious. IQ is lower than normal age, and there may be aggressive behavior, seizures and so on. If early diagnosis and treatment can be carried out, the symptoms can not occur completely or slightly, and the intelligence can reach or approach normal people.

Can children with phenylketonuria eat ordinary food?

The most effective treatment for phenylketonuria in children is a low phenylalanine diet. Due to the high content of L-phenylalanine in common foods, children with this disease cannot metabolize normally. Eating these foods alone will lead to irreversible nerve damage. Since L-phenylalanine is an essential amino acid for children's growth and development, it should be used reasonably according to the L-phenylalanine content of different foods under the guidance of doctors. This not only controls the concentration of phenylalanine in the blood, but also ensures sufficient nutritional needs.

4. Can you briefly explain the dietary treatment points of phenylketonuria to parents?

(1) 80% of the total protein intake necessary for the human body should come from Chinese special education therapeutic food and 20% from a natural drug food. The latter is the best high-quality product protein, such as meat, eggs, fish, etc.

(2) Phenylalanine content in meat, eggs, fish, milk and other high protein foods is also very high, which should be strictly limited.

(3) Ordinary Cereals, such as refined rice and white flour, are also high phenylalanine foods and should not be eaten. Special rice flour is recommended.

(4) The contents of protein and L-phenylalanine in potato, sweet potato, pumpkin, yam, lotus root, vermicelli, jelly and fruit are low. Consumption is unrestricted.

(5) Every child should be educated by a doctor or nutritionist, who can formulate and provide individualized recipes, which should be analyzed and adjusted according to the data of blood phenylalanine concentration. Through regular monitoring and timely follow-up, it is also to prevent hypophenylalaninemia.