Once diagnosed, patients with phenylketonuria maternal pku will be treated with special foods and drugs that do not allow them to eat normal food like normal people. Phenylketonuria is very rare. One in 15000 newborns is affected by the disease, with 20000 new cases worldwide each year.

Pizza, cake and ice cream are all children's favorite foods, but for some children, they can only eat fruits and vegetables because they suffer from a rare disease - phenylketonuria. These patients cannot digest amino acids in protein. They can't eat meat, fish, beans, cereals and milk. They can only eat fruits and vegetables. Their diet is very limited. If these children are given normal food, they will gradually become stupid, self abuse and even die.

What is phenylketonuria?

Phenylketonuria (PKU), also known as "rat urine disease", is a functional defect in the metabolism of an important amino acid. It is caused by the enzyme defect in the main metabolic pathway of phenylalanine. It is named because children need a large amount of Phenylpyruvate and other metabolic reaction products in their urine. Its incidence varies with different races, about 1 / 6000-1 / 25000. It is easy to appear in northern China.

PKU is a hereditary metabolic disease, which can be divided into typical PKU deficiency type and tetrahydrobiopterin (BH4) deficiency type. Typical PKU gene mutation leads to phenylalanine hydroxylase deficiency, phenylalanine (PHE) metabolic disorder and increased concentration, which eventually leads to brain injury and mental retardation. In addition to the abnormal metabolism of phenylalanine (PHE), BH4 deficiency also involves other enzyme metabolic pathways, and the symptoms are more serious.

Fortunately, more severe BH4 deficiency is less common in all PKU patients. Phenylketonuria is one of the few congenital metabolic diseases that can be treated in many birth defects. The earlier a child receives treatment, the less mental damage.

What's the matter with phenylketonuria?

Newborns have no clinical symptoms, and some children may have nonspecific symptoms such as difficulty in feeding, vomiting, irritability and so on. Symptoms will gradually appear 3 ~ 4 months after birth, such as hair from black to yellow, light skin color, more urine odor and sweat, and obvious mental retardation. In addition to the above symptoms, infants lacking BH4 will also have drowsiness, dysphagia, slow response, etc., And the damage to the nervous system will be more serious. (1) Growth retardation

In addition to physical growth retardation, it is mainly manifested in students' mental retardation. The IQ is lower than that of normal infants of the same age, which can begin to appear 4 ~ 9 months after birth. The IQ of severe patients is lower than 50, and the problem of language tissue development dysfunction is particularly important. These work performance studies suggest that we have brain development disorders.

• by Beatrice
• Mar 18,2022
• Topics
• 1141

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