Question

My daughter underwent a heel prick test at birth and she hadn’t started breastfeeding yet. She had jaundice symptoms at birth and they lasted for a while. She was premature due to umbilical cord entanglement around her neck. Members of our family have very fair skin, so my daughter’s skin is also very white. Now she has constipation issues, but an intestinal ultrasound did not reveal any abnormalities. Her urine has an ammonia-like smell, and we’re not sure how rat urine smells, so could she have phenylketonuria? She is now 14 months old, has grown 8 teeth, and learned to walk at 13 months. A cognitive test at the health clinic did not show any issues. We have already undergone neonatal disease screening and no abnormalities were found. Do you think there’s a high possibility that she has phenylketonuria since she hadn’t started eating when the heel prick test was done?

Answer

Hello, Phenylketonuria (PKU) is a genetic disorder caused by a deficiency of phenylalanine-4-hydroxylase (PAH) or its cofactor tetrahydrobiopterin (BH4) in the child’s body, leading to a metabolic disorder of phenylalanine, resulting in an excessive production of phenylpyruvate and causing damage to the nervous system. Phenylketonuria has three types, and it is recommended that you take your child to the hospital for examination so that treatment can be tailored according to different types. In terms of diet, patients need to consume foods free of phenylalanine.