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.
Definition of phenylketonuria in:
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