What are the manifestations of various phenylketonuria?

Different types of phenylketonuria present differently. Clinically, phenylketonuria is a common disease in children, and children can be divided into different types after onset. At present, the disease can be judged according to the performance of phenylketonuria, but for the understanding of phenylketonuria, we should go to a regular hospital for testing, and determine which type of phenylketonuria through basic examination.

After the occurrence of phenylketonuria, it will affect the intellectual function, and the patient will have intellectual disability. As the condition worsens, the condition also changes. Although this is a common condition in children, the problems caused by phenylketonuria cannot be ignored. After all, the effects of abnormal metabolism of phenylketonuria on the body need to be properly addressed.

There are many types of phenylketonuria, such as classic phenylketonuria, mild phenylketonuria, mild phenylalaninemia, etc. Classic phenylketonuria is mainly characterized by growth retardation, and the main features of physical retardation are short stature and malnutrition. In addition, it manifests as mental retardation, which is also the most obvious characteristic of infants with phenylketonuria. Mild phenylketonuria is manifested in language development, and the IQ is significantly lower than that of normal children of the same age. It is an autosomal recessive genetic disorder with a congenital disorder of amino acid metabolism, with an incidence of 11,000.

The incidence of inbreeding with mild phenylketonuria was significantly higher. Deficiency of phenylalanine hydroxylase in children results in the conversion of phenylalanine to phenylpyruvate, which is excreted in urine and sweat, causing odor. This is an inherited form of phenylketonuria. Newborns can be screened for phenylketonuria by phenylalanine and its metabolites in the blood. General clinical symptoms will appear gradually what is pku. Symptoms usually start at 3-6 months and become apparent at one year of age. After 3-4 months, untreated children gradually developed mental retardation, motor retardation, hair from black to yellow, fair skin, special mouse smells all over the body and urine, and eczema. With the increase of age, children's mental retardation becomes more and more obvious, and about 60% of the elderly children have serious mental retardation.

There are many types of phenylketonuria. Generally, patients will experience mental retardation, convulsions, high fever, death and other symptoms. Clinically, due to changes in the metabolic pathway of phenylalanine, phenylalanine cannot change normally, which will affect the patient's condition. When we understand the manifestations of various phenylketonuria, we can understand phenylketonuria based on the clinical medical school's test and the patient's physical condition.


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