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phenylketonuria

Syllabification: phen·yl·ke·to·nu·ri·a
Pronunciation: /ˌfenlˌkētōˈn(y)o͝orēə, ˌfēnl-
 
/
(abbreviation: PKU)

Definition of phenylketonuria in English:

noun

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

Definition of phenylketonuria in:

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