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phenylketonuria
Pronunciation: fee-nil-KEE-toh-NOOR-ee-ah
A genetic disorder where the body cannot break down the amino acid phenylalanine, leading to intellectual disability if untreated.
Full Definition
An autosomal recessive genetic disorder caused by deficiency of the enzyme phenylalanine hydroxylase, which converts phenylalanine to tyrosine. Without this enzyme, phenylalanine accumulates in the blood and can cause severe intellectual disability, seizures, and behavioral problems if left untreated. PKU was one of the first conditions included in newborn screening programs and can be effectively managed through dietary restriction of phenylalanine intake.
Usage
Usage note: Often abbreviated as PKU in clinical contexts, but spell out in full for general audiences.
In Context
- "Early detection of phenylketonuria through newborn screening allows for immediate dietary intervention to prevent cognitive impairment." — Medical research paper
- "The incidence of phenylketonuria varies by population, occurring in approximately 1 in 10,000 births in most Western countries." — Epidemiological report
Also known as
PKU
Don't confuse with
phenylketonemia
tyrosinemia