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Why do they call it pku?


Why do they call it pku?

They call it PKU because saying "phenylketonuria" over and over again is a mouthfull. The "uria" ending at the end signifies that phenylketones appear in the urine. People with PKU also usually have phenylketonemia (with the "emia" ending meaning that phenylketones appear in the blood).

Phenylketonuria (PKU) is a human genetic disorder, in which the body lacks phenylalanine hydroxylase, 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. The incidence of occurrence of PKU is about 1 in 15,000 births, but the incidence varies widely in different human populations from 1 in 4,500 births among the Irish to fewer than one in 100,000 births among the population of Finland.

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