What is phenylketonuria (PKU)?

Generally, phenylketonuria (PKU) is a common amino acid metabolic disorder and an autosomal recessive genetic disease. If adverse reactions are observed in a newborn, prompt medical attention is necessary. A detailed analysis is as follows:

Phenylketonuria is caused by mutations in genes located on autosomes, such as the deficiency or reduced activity of phenylalanine hydroxylase in the liver. Therefore, PKU is classified as an autosomal recessive genetic disorder. If both parents are carriers of the causative gene, the risk of their child developing the disease is higher than average. Moreover, even if neither parent has the disease, their child may become a carrier of PKU and pass the disease-causing gene to the next generation.

Common symptoms of phenylketonuria include delayed intellectual development, impaired growth and development, abnormal skin and hair, and a distinctive body odor. To prevent PKU, newborn screening should be conducted in advance. If abnormalities are detected, timely targeted treatment is necessary, such as restricting phenylalanine intake and ensuring sufficient intake of other nutrients, to reduce damage to the nervous system.

It should be noted that PKU generally has a good prognosis with timely treatment. However, neglecting the condition may lead to other complications. Additionally, to reduce the incidence of PKU, consanguineous marriage should be avoided as much as possible, and regular prenatal examinations should be conducted.