Questions

My daughter was born and underwent a heel prick test before she started breastfeeding. After birth, she showed symptoms of jaundice, which lasted for a long time. She was premature, due to umbilical cord entanglement around her neck. Members of our family have fair skin, and she does too. Now, she has constipation issues, but a bowel ultrasound did not reveal any abnormalities. Her urine has a ammonia-like smell; we’re not familiar with the smell of mouse urine, so she can’t have phenylketonuria, can she? She is now 14 months old and has grown 8 teeth; she started walking at 13 months. The intelligence test at the health clinic showed no issues. We have already done newborn disease screening and found no problems. Based on her condition, she should not have phenylketonuria, right? Because she hadn’t started drinking milk when she had the heel prick test.

Answers

Hello, phenylketonuria is caused by a deficiency in the enzyme phenylalanine-4-hydroxylase or its cofactor tetrahydrobiopterin in a child’s body, leading to a disorder in phenylalanine metabolism and the production of phenylpyruvate. This can result in congenital intellectual disabilities in children with the condition. Phenylketonuria has three types, and it is recommended that you take your child to the hospital for examination so that treatment can be tailored to the different types. In terms of diet, it is advisable to consume food that is free of phenylalanine.