Definición de phenylketonuria en inglés:

phenylketonuria

Saltos de línea: phenyl|ke¦ton¦uria
Pronunciación: /ˌfiːnʌɪlˌkiːtə(ʊ)ˈnjʊərɪə
 
, ˌfɛnɪl-/
(abbreviation: PKU)

sustantivo

[mass noun] Medicine
  • An inherited inability to metabolize phenylalanine which, if untreated, causes brain and nerve damage.
    Más ejemplos en oraciones
    • 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.

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Palabra del día kerf
Pronunciación: kəːf
noun
a slit made by cutting with a saw