PKU
Pronunciation: P-K-U or fee-nil-KEE-toe-NEW-ree-ah
Also written as: PKU — Phenylketonuria
A genetic disorder affecting the body's ability to break down the amino acid phenylalanine.
Full Definition
Phenylketonuria is an inherited metabolic disorder caused by deficiency of the enzyme phenylalanine hydroxylase, which converts phenylalanine to tyrosine. Without treatment, phenylalanine accumulates to toxic levels, leading to intellectual disability, seizures, behavioral problems, and other serious health issues. PKU is detected through mandatory newborn screening programs, and early treatment with a low-phenylalanine diet can prevent complications. The condition requires lifelong dietary management and regular monitoring of blood phenylalanine levels.
Usage
Usage note: Capitalize all letters in abbreviation; spell out on first mention in formal documents.
In Context
- "Newborn screening results showed elevated phenylalanine levels consistent with PKU." — Laboratory report
- "Early dietary intervention in PKU prevents the development of intellectual disability." — Medical literature