Patient's question:
My close friend's wife recently found out she has phenylketonuria right after she got pregnant. It can severely interfere with the baby's growth and development in the womb. She's reluctant to terminate the pregnancy. I want to know what treatment options are available for phenylketonuria?Doctor's answer:
There are several methods for treating phenylketonuria, such as, for classic phenylketonurics or those with medium to high phenylalanine levels, it is usually necessary to increase the intake of high-protein foods. Infants can choose phenylalanine-free formula to alleviate symptoms. In cases of tetrahydrobiopterin-responsive phenylketonuria, treatment typically involves taking tetrahydrobiopterin. Patients should pay attention to rest and avoid overexertion in daily life.