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phenylketonuria

(Science: disease) congenital absence of phenylalanine hydroxylase (an enzyme that converts phenylalanine into tyrosine). Phenylalanine accumulates in blood and seriously impairs early neuronal development. The defect can be controlled by diet and is not serious if treated in this way.

incidence: highest in Caucasians.

Acronym: PKU

Origin: Gr. Ouron = urine A genetic disorder of metabolism; lack of the enzyme needed to turn phenylalanine into tyrosine results in an accumulation of phenylalanine in the body fluids which causes various degrees of mental deficiency.