Patient's question:
I don't know what's going on, but my child has been misbehaving and crying non-stop recently. Even the hospital check-ups haven't helped. Can you tell me what phenylketonuria (PKU) is?Doctor's answer:
Phenylketonuria in children is an inherited metabolic disorder that is autosomal recessive and can be passed down through generations. It is primarily related to a defect in phenylalanine metabolism. Affected children mainly exhibit intellectual disability, delayed growth and development, and prominent psychiatric symptoms. Their sweat or urine may have a distinct musty odor. Diagnosis is typically made through a blood test to measure phenylalanine levels in the blood. Additionally, dietary management should focus on a low-phenylalanine diet.