1. A rare inherited metabolic disorder in which the body cannot properly break down the amino acid phenylalanine, potentially causing intellectual disability and other health problems if untreated.
Usage: Medical/scientific term; Commonly abbreviated as PKU; Detected through newborn screening in most developed countries

Examples

• Phenylketonuria is detected through routine newborn screening tests performed in hospitals.
• Infants diagnosed with phenylketonuria must follow a special low-phenylalanine diet to prevent neurological damage.
• Early treatment of phenylketonuria can prevent the severe intellectual disabilities that once characterized the condition.
• The discovery of phenylketonuria screening has dramatically improved outcomes for affected children.
• Patients with phenylketonuria must carefully monitor their protein intake throughout their lives.