Phenylketonuria (PKU) is a hereditary metabolic disease. In 1934, Norwegian physician Ivar asbjorn Flynn took the lead in discovering and studying the etiology maternal pku of PKU in detail. In clinical research, he found that a group of patients often have a bad smell, especially urine. It smells like mouse urine and usually has low intelligence. After extensive analysis of the patient's urine, Norwegian doctors found a large amount of the chemical phenylacetone and identified it as an autosomal recessive disease. In 1937, the disease was officially designated as phenylketonuria, or PKU for short. At the same time, he also found an embarrassing solution to avoid the mental retardation of Peking University patients—— Patients need to avoid the food that most of us normal people eat.

Children with phenylketonuria cannot completely metabolize phenylalanine, an amino acid found in almost all foods, due to the loss or lack of enzymes in the body. Without treatment, phenylalanine can accumulate in the blood of sick newborns and cause brain injury and delayed development of nervous system.

Most children with PKU behave normally at birth, and untreated children develop the following symptoms after 3-4 months:

1. Growth and development: after 3 months, intelligence and growth and development may lag behind and gradually increase with age. The IQ of severe people is lower than 50, and the language development disorder is particularly obvious.

maternal pku

2. Nervous system: about 25% of children have seizures and 80% have abnormal EEG.

Figure 3. Tonsillar hyperreflexia. It often causes irritability, hyperactivity and mental abnormalities. Skin and hair: most children are colored. Vegetarianism is reduced, such as brown or yellow hair, pale and greasy skin.

4. Other characteristics: there is a special rat odor in urine and sweat. The PAH activity of children is 0-4.4% of that of normal people.

At present, there is no effective treatment and research drug for phenylketonuria. Patients can only take exclusive nutritional and health food enterprises without or low phenylalanine for life to provide reasonable nutritional support, so as to control their condition. For the development of infants and young children in China, the problem of formula food for special function food is such a safe and effective choice for food companies. Teachers should pay attention to the appropriate combination of phenylalanine and alanine for the growth of infants. At the same time, teachers should also pay attention to the development of infants suffering from phenylalanine and alanine according to the psychological needs of infants.