Meaning of phenylketonuria in English:

phenylketonuria

(also PKU)

Pronunciation /ˌfiːnʌɪlˌkiːtə(ʊ)ˈnjʊərɪə/ /ˌfɛnɪlˌkiːtə(ʊ)ˈnjʊərɪə/

noun

mass nounMedicine
  • An inherited inability to metabolize phenylalanine which, if untreated, causes brain and nerve damage.

    ‘Several diseases are directly caused due to single nucleotide changes such as thalassaemia, muscular dystrophy, phenylketonuria, long QT syndrome, familial hypertrophic cardiomyopathy etc.’
    • ‘Tuberous sclerosis, untreated phenylketonuria and fragile X syndrome are genetic syndromes associated with autism.’
    • ‘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.’
    • ‘Persons with a rare hereditary disease known as phenylketonuria must control their phenylalanine intake from all sources, including Aspartame.’
    • ‘A classic example of an autosomal recessive inborn error of metabolism is phenylketonuria.’