Phenylketonuria (PKU)
Phenylketonuria (PKU) is a rare but serious autosomal recessive metabolic disorder that affects the body’s ability to metabolize the amino acid phenylalanine. Without prompt diagnosis and dietary intervention, PKU can result in irreversible intellectual disability and neurological impairment. This article presents a detailed, evidence-based overview of PKU, its pathophysiology, clinical features, diagnosis, management, and preventive