Patient's question:
Recently, many blisters have appeared on the baby's face, and it is suspected to be phenylketonuria. Hello, is the phenylketonuria screening expensive?Doctor's answer:
Phenylketonuria (PKU) is a common autosomal recessive genetic disease. Both parents of the children carry the blood disease gene. If premarital counseling is not conducted, it will certainly be passed on to the child after conception. The blood disease gene interferes with the activity of phenylalanine transaminase in the body, leading to the accumulation of phenylalanine and its metabolites, resulting in brain atrophy and intellectual disability. However, at birth, the infant's appearance shows no abnormalities, and symptoms begin to reappear after breastfeeding and protein intake. Around 3 months after birth, the hair turns yellow from black, the urine has a foul odor, and the infant cannot lift their eyes. At 6 months, the symptoms become more pronounced, and even severe convulsions and pain may occur. If immediate treatment is provided after birth, intellectual disability can be prevented.