Definition of phenylketonuria in English:
phenylketonuria
(also PKU)
noun ˌfiːnʌɪlˌkiːtə(ʊ)ˈnjʊərɪəˌfɛnɪlˌkiːtə(ʊ)ˈnjʊərɪəˌfēnl-
mass nounMedicine An inherited inability to metabolize phenylalanine which, if untreated, causes brain and nerve damage.
Example sentencesExamples
- Persons with a rare hereditary disease known as phenylketonuria must control their phenylalanine intake from all sources, including Aspartame.
- 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.
- Several diseases are directly caused due to single nucleotide changes such as thalassaemia, muscular dystrophy, phenylketonuria, long QT syndrome, familial hypertrophic cardiomyopathy etc.
- A classic example of an autosomal recessive inborn error of metabolism is phenylketonuria.