Patient's question:
My baby is two years old, but he hasn't learned to respond or walk yet. I haven't given him any stimulating foods, but his urine always has a strange, indescribable odor. I took him to the hospital for a thorough check-up, and the doctor said he suffers from phenylketonuria. I'm very worried and sad. How long can children with phenylketonuria live?Doctor's answer:
Phenylketonuria is an autosomal recessive genetic disease, as well as a congenital amino acid metabolism disorder. The incidence rate in China is 1%. If a mother has given birth to a child with this disease, the risk of recurrence during subsequent pregnancy is 25%. The incidence rate significantly increases in consanguineous marriages. Children with this condition lack phenylalanine hydroxylase in their bodies, which prevents phenylalanine from being metabolized normally. Instead, it is converted into phenylpyruvate and excreted through urine and sweat, emitting an abnormal odor, hence the name phenylketonuria.