Question
How Long Do Children with Phenylketonuria Live?
Answer
Phenylketonuria is a common chromosomal recessive genetic disorder, also known as a congenital amino acid metabolism disorder, with an incidence rate of one percent in our country. The incidence rate increases to 25% for mothers who have given birth to a child with the disease and become pregnant again, and it is significantly higher in consanguineous marriages. Children with phenylketonuria lack phenylalanine hydroxylase, causing the phenylalanine they consume to be unable to be normally metabolized, instead turning into phenylpyruvate and excreted through urine and sweat, resulting in an abnormal odor, hence the name “phenylketonuria.”