Phenylketonuria details

How much do you know about the details of phenylketonuria? Many people are very unfamiliar with this disease, and have never even heard of it. However, if this disease is not treated as soon as possible, the consequences are also very serious. So, let's learn about the details of phenylketonuria together!

Phenylketonuria is caused by abnormal phenylalanine metabolism in the body. Phenylalanine is an amino acid necessary for human growth and metabolism. Part of the phenylalanine taken into the body is used for protein synthesis, and part is converted into tyrosine through the action of phenylalanine hydroxylase to exert its function. Phenylalanine hydroxylase requires tetrahydrobiopterin as a coenzyme to achieve better results.

Most PKU children are normal at birth, with no obvious clinical symptoms in the neonatal period. Untreated children gradually show delayed intellectual and motor development after 3 to 4 months, with their hair turning from black to yellow, their skin white, their body and urine having a special mouse odor, and often eczema. As they age, their intellectual disability becomes more and more obvious, and about 60% of older children have severe intellectual disabilities.

To prevent the onset of phenylketonuria, early diagnosis and early treatment are necessary to avoid damage to the nervous system caused by excessive phenylalanine metabolites, such as phenylpyruvate, phenylacetate and phenyllactic acid. Since it takes a certain amount of time for phenylpyruvate, phenylacetate and phenyllactic acid in the body to accumulate to the concentration required to damage the brain, even in PKU children, the concentration of these abnormal metabolites often only increases within 1 to 2 months after birth, which does not cause irreversible damage.

In summary, phenylketonuria is a treatable genetic metabolic disease, and early treatment is more effective. And through newborn disease screening, it can be diagnosed before the onset of the disease, and timely treatment can be carried out to prevent the disease. For families who already have children with PKU, if the parents of the children want to have another child, prenatal diagnosis can be used to determine whether the fetus has phenylketonuria.