Pku (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
- PKU is a genetic disorder that affects the body's ability to metabolize the amino acid phenylalanine.
- Infants with PKU must be placed on a special diet immediately after birth to prevent brain damage from phenylalanine buildup.
- The symptoms of PKU may include seizures, tremors, or a musty odor in the breath, urine, or skin.
- Newborn screening tests are crucial for early detection of PKU, allowing for prompt treatment.
- If left untreated, PKU can cause severe intellectual disabilities and other serious health problems.