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 umbilical 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 did a newborn disease screening, and it did not reveal any problems. Could her condition be phenylketonuria? Because she was not breastfed when her heel blood was collected.Doctor's answer:
Hello, phenylketonuria in children is caused by a decrease in the activity of phenylalanine hydroxylase in the child's body or a lack of its coenzyme tetrahydrobiopterin. This leads to a metabolic disorder of phenylalanine, producing phenylpyruvate, and children with the condition may develop congenital intellectual disability. Phenylketonuria has three types, and it is recommended to go to the hospital for examination and treatment based on different types. In terms of diet, one should consume foods that do not contain phenylalanine.