Question
What causes infant phenylketonuria?
Answer
Infant phenylketonuria is a congenital metabolic disorder primarily caused by an enzyme defect in the phenylalanine metabolic pathway. This condition leads to the accumulation of phenylalanine and its related metabolic products in the blood and urine, triggering a series of symptoms. The symptoms of phenylketonuria may appear soon after birth or may not manifest until several months later. Early symptoms may include vomiting, feeding difficulties, and developmental delays. If not treated promptly, phenylketonuria can lead to severe neurological damage, including intellectual disabilities and seizures. Early diagnosis and treatment are crucial to prevent neurological damage. Since infants typically do not exhibit symptoms in the early stages, laboratory testing is key for diagnosis. Once diagnosed, immediate proactive measures should be taken, primarily through dietary control to limit the intake of phenylalanine, while providing other essential amino acids and nutritional support. With such dietary treatment, most children can lead a normal life and have the hope of avoiding severe neurological complications. In addition, regular medical monitoring and nutritional counseling are important components for maintaining the child’s health.