phenylketonuria

Full Definition

A rare genetic condition caused by deficiency of the enzyme phenylalanine hydroxylase, which converts phenylalanine to tyrosine. Without treatment, toxic levels of phenylalanine accumulate, leading to intellectual disability, seizures, behavioral problems, and other serious health issues. PKU is detected through newborn screening programs and managed with a strict low-phenylalanine diet throughout life. Early diagnosis and dietary intervention can prevent developmental complications.

Usage

Usage note: PKU is acceptable abbreviation after first use; emphasize importance of dietary compliance.

In Context

• "The newborn screening test detected elevated phenylalanine levels, confirming phenylketonuria." — metabolic consultation
• "The child with PKU maintained normal development through strict adherence to the low-phenylalanine diet." — follow-up appointment