Question
What medications can phenylketonuria patients take?
Answer
Phenylketonuria is a common amino acid metabolism disorder caused by an enzyme deficiency in the phenylalanine degradation pathway, leading to the inability of phenylalanine to be converted into tyrosine. This results in the accumulation of phenylalanine and its ketones, which are excreted in large quantities in the urine. When the phenylalanine level exceeds 0.24 mmol/L, which is twice the normal reference value, a retest or a venous blood quantitative test for phenylalanine and tyrosine should be conducted. Once a confirmed diagnosis is made, active treatment should be initiated as soon as possible.