Definition of phenylketonuria in US English:


(also PKU)


  • An inherited inability to metabolize phenylalanine that causes brain and nerve damage if untreated.

    • ‘A classic example of an autosomal recessive inborn error of metabolism is phenylketonuria.’
    • ‘Several diseases are directly caused due to single nucleotide changes such as thalassaemia, muscular dystrophy, phenylketonuria, long QT syndrome, familial hypertrophic cardiomyopathy etc.’
    • ‘Persons with a rare hereditary disease known as phenylketonuria must control their phenylalanine intake from all sources, including Aspartame.’
    • ‘Stem cell technology may produce cures for Alzheimer's disease; vascular growth factors may enable the body to produce its own cardiac bypasses; and the elimination of metabolic derangements may cure phenylketonuria and diabetes.’
    • ‘Tuberous sclerosis, untreated phenylketonuria and fragile X syndrome are genetic syndromes associated with autism.’