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44: 288–92 Phenylketonuria Major points • Caused by absence of hepatic phenylalanine hydroxylase (PAH) with build-up of phenylalanine Mallory Chapter 14 254 27/1/05 2:30 pm Page 254 Illustrated Manual of Pediatric Dermatology • If untreated, phenylketonuria results in mental retardation and pigment dilution • Most patients have blonde hair, blue eyes, fair skin, • • • photosensitivity, mousy body odor and neurologic disturbances When treated, skin coloration reverts to normal Autosomal recessive Gene/gene locus: phenylalanine hydroxylase/12q24.1 and others References Beasley MG, Costello PM, Smith I