Patient's question:
In recent days, the baby's urine has been emitting a strong odor, and the family members were unaware of what was causing it. They went to the nearby hospital for a thorough examination. The results showed a positive value for phenylketonuria (PKU). We were also confused, and the doctor said further tests were needed.What kind of help is needed: What is the normal value of PKU?
Doctor's answer:
Newborn phenylketonuria screening normal values are generally below 1.2 mmol/L (20 mg/dL). Newborn ketonuria is a congenital metabolic disease, an autosomal recessive disease that is inherited over generations. If effective measures are not taken in time, it may affect the child's intelligence and potentially lead to mental retardation. If the value is only slightly below 0.1, there may be an error in the examination, and it is recommended to retest to confirm the value. If the value remains below the normal range, a low-phenylalanine diet can be adopted. During the early childhood period, supplementary foods should be based on low-protein foods such as starches, vegetables, and fruits.