Intermediate
Technical
In the Industry Vocabulary Test
PKU
Also written as: PKU — phenylketonuria
Phenylketonuria, a genetic disorder affecting amino acid metabolism.
Full Definition
Phenylketonuria is an inherited metabolic disorder in which the body cannot break down the amino acid phenylalanine due to deficiency of the enzyme phenylalanine hydroxylase. If untreated, PKU can lead to intellectual disability, behavioral problems, and other serious health issues. Early detection through newborn screening allows for dietary management that prevents complications.
Usage
Usage note: Always capitalize as PKU, not Pku or pku.
In Context
- "The infant tested positive for PKU and was immediately referred to a metabolic specialist." — screening result
- "PKU requires lifelong dietary management to prevent intellectual disability." — patient education material
Also known as
phenylketonuria
Don't confuse with
PKD
PKC