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 intellectual disability as a result of the accumulation of phenylalanine and its breakdown products.
Origin of phenylketonuriaphenylketone the class of organic compounds including phenylpyruvic acid, a breakdown product of phenylalanine that is abnormally abundant in the urine of those having the disorder ( phenyl ) ( ketone ) ur(o)- 1 -ia 1
(countable and uncountable, plural phenylketonurias)
From phenylketone +"Ž -uria.