Patient's question:
When my child was 7 days old, the doctor drew blood for screening. At 22 days, we were informed of the screening results: PA: 121, which raised suspicion of phenylketonuria. None of us in the family has this condition, and we are completely unfamiliar with it. We want to know what the normal value for phenylketonuria is. What kind of help is needed: What is the normal value for phenylketonuria?Doctor's answer:
Phenylketonuria (PKU) is a type of congenital metabolic disease, inherited in an autosomal recessive manner across generations. It is caused by a chromosomal gene mutation that leads to a deficiency of phenylalanine hydroxylase (PAH) in the liver, resulting in impaired phenylalanine (PA) catabolism and causing damage to the central nervous system. The optimal treatment is dietary control, requiring the consumption of a large amount of low-protein foods, while protein-rich foods should be avoided as this disease can lead to the inability to properly metabolize proteins. Consuming protein-rich foods can instead place a burden on the body. This dietary management must be maintained until growth and development are fully completed during puberty. Early treatment is always the best.