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phen·yl·ke·to·nu·ri·a(fĕn′əl-kēt′n-o͝or′ē-ə, -yo͝or′-, fē′nəl-)
n. Abbr. PKU
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.
[phenylketone, 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)- + -ia.]
phen′yl·ke′to·nu′ric adj. & n.
(Pathology) a person who is suffering from phenylketonuria or the condition in which the amount of phenylalanine in the blood cannot be regulated by the liver
(Pathology) relating to the condition known as phenylketonuria in which the amount of phenylalanine in the blood cannot be regulated by the liver