Patient's question:
I have a one-year-old baby at home. Recently, when I took him to the hospital for a thorough check-up, the doctor said that the child's PKU is abnormal. Therefore, I would like to ask a few questions: What is the normal range for phenylketonuria?Doctor's answer:
Screening can be performed before or after the fetus is delivered to prevent problems before they occur. The normal value for neonatal phenylketonuria screening is generally less than 20 mg/dL. Neonatal ketonuria is a congenital metabolic disease, which is an autosomal recessive disease inherited over generations. Understand the need for thorough examinations and tests, relax your mind, and promptly treat any abnormalities based on the values in the test results. Maintain a balanced diet. Since phenylalanine is an essential amino acid required for protein synthesis, its complete absence can lead to neurological damage. Therefore, infants can be fed specially formulated low-phenylalanine formula, and during the weaning period, supplementary foods should be based on low-protein foods such as starches, vegetables, and fruits. If effective measures are not taken in a timely manner, it may affect the child's intelligence and could potentially lead to mental retardation.