Definition of phenylketonuria in English:
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.
Definition of phenylketonuria in:
- British & World English dictionary
What do you find interesting about this word or phrase?
Comments that don't adhere to our Community Guidelines may be moderated or removed.
Most popular in the US
Most popular in the UK
Most popular in Australia
Most popular in Malaysia
Most popular in Pakistan