Patient's question:
I don't know what's going on, but my child has been misbehaving and crying non-stop recently. Even the hospital check-ups haven't helped. Could you please explain what PKU (phenylketonuria) is?Doctor's answer:
Mainly a chromosomal recessive disease caused by congenital abnormalities in amino acid metabolism. This is the most common type of newborn screening, and the earlier the treatment, the better. The main concern is to prevent permanent neurological damage in the baby. Treatment involves a low-phenylalanine diet. Mainly, low-phenylalanine formula is used, and as the baby grows, a low-phenylalanine diet is adopted. It is essential to monitor phenylalanine concentration regularly. This should be maintained at least until puberty. Lifelong treatment would be even better.