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单词 phenylketonuria
释义

Definition of phenylketonuria in English:

phenylketonuria

(also PKU)
noun ˌfiːnʌɪlˌkiːtə(ʊ)ˈnjʊərɪəˌfɛnɪlˌkiːtə(ʊ)ˈnjʊərɪəˌfēnl-
mass nounMedicine
  • An inherited inability to metabolize phenylalanine which, if untreated, causes brain and nerve damage.

    Example sentencesExamples
    • Persons with a rare hereditary disease known as phenylketonuria must control their phenylalanine intake from all sources, including Aspartame.
    • 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.
    • Several diseases are directly caused due to single nucleotide changes such as thalassaemia, muscular dystrophy, phenylketonuria, long QT syndrome, familial hypertrophic cardiomyopathy etc.
    • A classic example of an autosomal recessive inborn error of metabolism is phenylketonuria.
 
 

Definition of phenylketonuria in US English:

phenylketonuria

(also PKU)
nounˌfēnl-
Medicine
  • An inherited inability to metabolize phenylalanine that causes brain and nerve damage if untreated.

    Example sentencesExamples
    • 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.
    • 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.
    • Several diseases are directly caused due to single nucleotide changes such as thalassaemia, muscular dystrophy, phenylketonuria, long QT syndrome, familial hypertrophic cardiomyopathy etc.
 
 
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更新时间:2024/12/23 19:05:09