Patient's question:
NoDoctor's answer:
Phenylketonuria (PKU) is one of the most common inherited metabolic diseases affecting amino acid metabolism. It is an autosomal recessive genetic disorder, and newborn screening is an effective method for diagnosis during the neonatal period. PKU newborn screening commonly employs the Guthrie bacterial inhibition assay or fluorescence method to measure Phe concentration in dried blood spots. The ferric chloride test in urine is used for screening larger infants and children who have not been treated. PKU is primarily treated with a low-phenylalanine diet, combined with medication.