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Phenylketonuria (pku) is a recessive hereditary disease which, because of a defective enzyme, causes the body to fail to oxidize the phenylalanine to tyrosine.

Phenylketonuria is characterized by symptoms such as tremor, spasticity, convulsions, hyperactivity, mental deficiency, eczema, unusual hand posturing, and an offensive odor of urine and sweat. If the disease is not treated early, brain damage can occur causing severe mental retardation.

Thomas, C.L. 1985. Taber's Cyclopedic Medical Dictionary. F.A. Davis Co. Pub., Philadelphia. 2170.


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