An inherited inability to metabolize phenylalanine that causes brain and nerve damage if untreated.
- 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.
For editors and proofreaders
Definition of phenylketonuria in:
What do you find interesting about this word or phrase?
Comments that don't adhere to our Community Guidelines may be moderated or removed.