Patient's question:
My friend is the mother of a phenylketonuria patient. My friend's daughter is eleven years old this year and is currently in fifth grade of elementary school. The child is quite filial. My friend is always troubled by this disease. The child is now doing well, but she doesn't know what medicine to use to suppress it. Is there any medicine to suppress this disease?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, and a significant excretion in the urine. When phenylalanine levels exceed 0.24 mmol/L, which is twice the normal reference value, retesting or a quantitative measurement of phenylalanine and tyrosine via venous blood should be performed. Once a definitive diagnosis is established, active treatment should be initiated as early as possible.