Patient's question:
My daughter had her heel pricked for blood collection at birth and was not breastfed. She had jaundice at birth, which lasted for a long time. {She was a premature baby, and the cause of her birth was a navel cord}. Because everyone in our family is very fair, her skin tone is also very fair. Now she has constipation, and an ultrasound of her intestines showed no problems. Her urine has an ammonia-like smell, and we don't know what mouse urine smells like. Could she have phenylketonuria (PKU)? She is now fourteen months old and has grown eight teeth. She started walking at thirteen months. The health center's intelligence check had no issues. We have done newborn disease screening, and no problems were found. Could her condition be phenylketonuria? Because she was not breastfed when her heel blood was collected.Doctor's answer:
Hello, this is a chromosomal genetic disease. It is recommended that the earlier the treatment for phenylketonuria starts, the better the effect. However, dietary control is long-term, and the specially formulated foods are expensive. Wishing you good health.