phenylketonuria
Pronunciation: FEE-nil-kee-toe-NEW-ree-ah
Inherited metabolic disorder characterized by inability to process the amino acid phenylalanine, detected through newborn screening.
Full Definition
A rare autosomal recessive genetic disorder caused by deficiency of the enzyme phenylalanine hydroxylase, which converts phenylalanine to tyrosine. Without this enzyme, phenylalanine accumulates to toxic levels, potentially causing intellectual disability, seizures, behavioral problems, and a musty body odor if left untreated. The condition is detected through routine newborn screening using dried blood spot analysis, typically performed 24-48 hours after birth. Early detection and treatment with a phenylalanine-restricted diet can prevent complications and allow for normal cognitive development. The incidence varies by population but occurs in approximately 1 in 10,000 to 15,000 births in most populations.
Usage
Usage note: Often abbreviated as PKU in clinical documentation; single word, not hyphenated.
In Context
- "Newborn screening revealed elevated phenylalanine levels consistent with phenylketonuria." — Laboratory report
- "Early diagnosis of phenylketonuria allows for dietary intervention to prevent intellectual disability." — Genetic counseling note