| PKU | <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 (15 Oct 1997) |
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| non-PKU hyperphenylalaninaemia | A benign phenotype in which phenylalanine monooxygenase is deficient but is greater than 1% of normal levels. (05 Mar 2000) |
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