单词	phenylketonuria
释义	phenylketonuria /ˌfiːnʌɪlˌkiːtə(ʊ)ˈnjʊərɪə / /ˌfɛnɪlˌkiːtə(ʊ)ˈnjʊərɪə/ (abbreviation PKU) noun [mass noun] Medicine 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.
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