Patient's question:
Patient is 25 years old. My partner and I already have a child who is doing well, but the child of my partner's sister has phenylketonuria. Now we want a second child and are a bit worried, feeling sad that the child might also have phenylketonuria.Hello, what type of genetic disease is phenylketonuria?
Doctor's answer:
Phenylketonuria (PKU), a rare disease, is a congenital amino acid metabolic disorder. In children with this condition, phenylalanine cannot be properly converted to tyrosine, leading to the re-appearance of phenylpyruvate in the urine. Phenylketonuria (PKU), a rare disease, is a treatable genetic metabolic disorder. Early treatment is highly effective. It can also be diagnosed before symptoms appear through newborn screening, enabling timely treatment and prevention of the disease.