PKU
Noun: A genetic metabolic disorder caused by the body's inability to properly process the amino acid phenylalanine due to a deficiency of a specific enzyme. This leads to a harmful buildup of phenylalanine, which can cause intellectual disability and other neurological problems if not managed from infancy.
PKU is a medical term used primarily in clinical, scientific, and healthcare contexts. It is an abbreviation for "phenylketonuria." * Newborns are routinely screened for PKU. * Managing PKU requires a strict lifelong diet low in phenylalanine. * Early diagnosis of PKU is crucial for preventing severe complications.
- "to have PKU": to be diagnosed with the disorder.
- Their daughter has PKU, so they carefully monitor her protein intake.
- "PKU screening/test": the medical procedure to detect the disorder.
- The PKU test is a standard part of newborn care.
- Phenylketonuria (n): The full, formal name for PKU.
- Phenylalanine (n): The amino acid that accumulates in the bodies of individuals with PKU.
- Phenylketonuria (n): The direct, non-abbreviated synonym.
This word has one specific meaning as a medical condition. It is not used in general language or with figurative meanings.
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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