Question
My daughter was born with a full blood sample and did not breastfeed. She had jaundice at birth, and it lasted for a long time. She was premature, due to the umbilical cord being wrapped around her neck. Since all of us in the family are very fair-skinned, she has fair skin as well. Now, she has constipation, and her intestines showed no issues on the B-ultrasound. Her urine has an ammonia-like smell, and we don’t know what rat urine tastes like. Could she have phenylketonuria (PKU)? She is now fourteen months old, has eight teeth, and walked at thirteen months without any issues during the health check at the pediatrician’s office. We have conducted a newborn disease screening, and no problems were found. Could her condition be PKU? Because she did not breastfeed when she had her full blood sample.
Answer
Hello, this is a chromosomal genetic disorder. It is recommended that phenylketonuria be treated as early as possible for the best results, but dietary control is long-term and the special food is expensive. Wishing you health.