Question
Is the cost of phenylketonuria screening expensive?
Answer
Phenylketonuria is a common autosomal recessive genetic disorder. Both parents of the child carry the sickle cell anemia gene. If premarital consultation is not conducted, it will certainly be passed on to the child after pregnancy. The sickle cell anemia gene interferes with the activity of phenylalanine transaminase in the body, causing an accumulation of phenylalanine and its metabolites, leading to brain atrophy and intellectual disability. However, at birth, the baby does not show any abnormalities in appearance, and symptoms begin to reappear after breastfeeding and protein intake. By about 3 months after birth, the hair will turn yellow, the urine will have a foul smell, and the baby will be unable to lift their eyes. By 6 months, symptoms become more pronounced, even with severe twitching and pain. Immediate treatment after birth can prevent mental retardation.