Phenylketonuria (Noun)
Meaning
A genetic disorder of metabolism; lack of the enzyme needed to turn phenylalanine into tyrosine results in an accumulation of phenylalanine in the body fluids which causes various degrees of mental deficiency.
Classification
Nouns denoting natural processes.
Examples
- The doctor diagnosed the infant with phenylketonuria, a genetic disorder that required a strict diet to manage.
- Untreated phenylketonuria can lead to severe intellectual disability and other serious health problems.
- Newborn screening tests can detect phenylketonuria, allowing for early intervention and treatment.
- The patient with phenylketonuria had to avoid foods high in phenylalanine, such as nuts and soy products.
- Researchers are working to develop new treatments for phenylketonuria, including enzyme replacement therapy.