a genetic disorder of phenylalanine metabolism, which, if untreated, causes severe mental disability in infants through the accumulation of toxic metabolic products
Origin of phenylketonuriaphenyl + ketonuria
A genetic disorder in which the body lacks the enzyme necessary to metabolize phenylalanine to tyrosine. Left untreated, the disorder can cause brain damage and progressive mental retardation as a result of the accumulation of phenylalanine and its breakdown products.
(countable and uncountable, plural phenylketonurias)
From phenylketone +"Ž -uria.