Question
What is the hereditary pattern of phenylketonuria, and what methods can be used to prevent it?
Answer
Phenylketonuria (PKU) is an autosomal recessive genetic disorder. Its hereditary pattern is that of intergenerational inheritance. Individuals with PKU typically do not show symptoms at birth, but once they start consuming protein, abnormal metabolism of phenylalanine leads to the accumulation of phenylpyruvate and phenylalanine in the body, which can cause a series of nervous system damage and other complications. To avoid passing on PKU to the next generation, both parents can undergo genetic counseling and genetic testing before or early in pregnancy. If both are found to be carriers of the PKU disease-causing gene, prenatal diagnosis can be carried out during pregnancy, such as amniocentesis or chorionic villus sampling, to determine whether the fetus is affected. In addition, through prenatal diagnosis, doctors can suggest appropriate treatment measures, such as starting a low-phenylalanine diet immediately after birth to prevent the progression of the disease. In summary, understanding family medical history, undergoing genetic counseling and genetic testing, and taking appropriate prenatal diagnosis and treatment measures are effective ways to prevent and reduce the risk of PKU.