Patient's question:
Can phenylketonuria be cured? How is this disease inherited across generations? Last Tuesday, I was taken to the hospital because of a seizure. The doctor said it was very likely phenylketonuria, but further tests are needed.Doctor's answer:
It is a common amino acid metabolic disorder, caused by a deficiency of enzymes in the phenylalanine degradation pathway, which prevents phenylalanine from being converted into tyrosine. This leads to the accumulation of phenylalanine and its ketone bodies, which are excreted in large amounts in the urine. Screening is usually performed 72 hours after birth. If early diagnosis and early treatment can be achieved, patients need to maintain long-term dietary control of phenylalanine content to prevent or reduce brain damage.