Patient's question:
Recently while using the computer, I accidentally came across a lot of information about the dangers of phenylketonuria. One of my friends is pregnant, and I told her about it. She wants to do a thorough check-up and wants to know the screening methods for phenylketonuria?Doctor's answer:
The content of neopterin and biopterin in urine was determined by high-performance liquid chromatography to identify various types of PKU. In typical PKU children, the total excretion of pterins in urine is increased, while the ratio of neopterin to biopterin is normal. In children with DHPR deficiency, the total production of pterins is increased, with an increase in tetrahydrobiopterin. In 6-PTS deficiency children, there is an increase, and the ratio of 6-PTS to biopterin is also increased. In GTP-CH deficiency children, there is an increase.