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[mass noun] An inherited inability to metabolize phenylalanine which, if untreated, causes brain and nerve damage.
- ‘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.’
- ‘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.’
- ‘Several diseases are directly caused due to single nucleotide changes such as thalassaemia, muscular dystrophy, phenylketonuria, long QT syndrome, familial hypertrophic cardiomyopathy etc.’
- ‘Persons with a rare hereditary disease known as phenylketonuria must control their phenylalanine intake from all sources, including Aspartame.’
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