Patient's question:
Recently, I've noticed that the intelligence of my friend's child seems a bit twisted. After asking, I learned that he suffers from phenylketonuria. What is phenylketonuria?Doctor's answer:
Phenylketonuria (PKU) is a common amino acid metabolic disorder. It is caused by a deficiency of enzymes in the phenylalanine degradation pathway, where phenylalanine cannot be converted into tyrosine, leading to the accumulation of phenylalanine and its ketone bodies, which are excreted in large amounts in the urine. This condition manifests as intellectual disability, tics, and increased pigmentation. Once diagnosed, prompt and active treatment should be initiated. Close relatives should not marry. Pregnant women with a family history of the disease must undergo prenatal diagnosis using DNA prediction or testing for wingless-related homeobox 1 (Wnt1) protein in amniotic fluid. Since PKU is a genetic disorder, both parents and the child need to collect blood samples for genetic diagnosis.