What is a potential consequence of PKU if left untreated in children?

• A. Increased height
• B. Intellectual disability
• C. Vision impairment
• D. Physical deformities

Answer: (B)

Phenylketonuria (PKU) is a genetic disorder that results in the inability to metabolize an amino acid called phenylalanine. If children with PKU do not receive proper dietary management and treatment, the accumulation of phenylalanine can lead to severe and irreversible damage to the brain, ultimately resulting in cognitive impairments. This cognitive damage often manifests as an intellectual disability, which is a central concern in untreated cases of PKU.

Managing PKU through a strict diet low in phenylalanine can significantly prevent the development of intellectual disabilities, which is why early diagnosis and intervention are critical. Understanding the relationship between elevated phenylalanine levels and cognitive functioning highlights the necessity of treatment in preventing adverse outcomes in children with this condition.