Release date: 2009-12-02
Consultant: Ms. Zhao Q: My daughter was diagnosed with phenylketonuria. What is the cause of this? How to treat it later?
Expert: Fu Jianhua, a professor of newborns at Shengjing Hospital affiliated to China Medical University: Phenylketonuria (PKU), also known as hyperphenylalaninemia, is a more common hereditary amino acid metabolic disease due to congenital Lack of related enzymes or low activity, leading to phenylalanine metabolism disorder, metabolites can not be excreted normally in the body, accumulated in the body, over time, toxicity to various systems in the body, affecting system function, especially damage to central nervous function, clinically Features a low intelligence, seizures and hypopigmentation.
There are no obvious special clinical symptoms in children at the time of their birth. Generally, after 3 to 4 months of birth, clinical symptoms gradually appear, and vomiting, irritability, and neuromotor development are beginning to occur. If there is no timely treatment, the baby will have obvious mental retardation within 4 to 9 months. In particular, language development disorders, the symptoms are more obvious at the age of one.
Newborn screening is an effective means of early detection of this disease. After the newborn is born 3 days, a drop of baby's heel peripheral blood is collected, sucked on thick filter paper, and sent to the relevant screening laboratory immediately after drying.
According to relevant data, China has about 1 million people born with defects every year. Newborn disease screening is one of the preventive measures to improve the quality of the birth population and reduce birth defects. It is understood that the current incidence of PKU in China is 1/14700. The earlier the genetic metabolic disease that causes mental retardation, the better the intervention effect, and the new screening is the key to grasping the optimal treatment timing.
Once diagnosed, treatment should be actively performed, and the younger the treatment, the better the treatment will be. At present, mainly based on diet therapy. When adding food in early childhood, it should be based on low-protein foods such as starch, vegetables and fruits. Since phenylalanine is an essential amino acid for the synthesis of proteins, it can also cause damage to the nervous system and even death. Therefore, diet therapy should have a careful plan, the level of phenylalanine should be regularly tested during treatment in order to adjust the diet. Dietary control needs to last at least until after puberty. Meditech Medical Network
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