Phenylketonuria PKU
Name & Definition of Disability PKU is a rare, inherited metabolic disease that results in mental retardation and other neurological problems. (National PKU News) PKU affects the way the body processes food. Causes Children with PKU cannot process a protein called phenylalanine. In “classic PKU” the enzyme that breaks down phenylalanine, phenylalanine hydroxylase, is completely or nearly completely deficient. ... PKU in inherited when both parents have the PKU gene and pass it to their baby. ... (National PKU News) The parents are silent carriers and have no symptoms. Characteristics PKU causes mental retardation and other neurological problems. Infants with PKU appear normal at birth. ... Treatment Now (and since about the 1960s) all babies are tested for PKU before they leave the hospital. ... The most effective way to treat PKU is diet.