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A case of two sisters births from mother with phenylketonuria lacking mental retardation

Chang-Seok Ki, Jin Kyung Kim

Clin Exp Pediatr. 2008;51(5):546-550. Published online May 15, 2008

In this untreated classic phenylketonuria (PKU) case, mental retardation is severe; however, there have been individualslike the mother of this casewho have escaped mental retardation and all the other potential sequelae of phenylketonuria, despite having high blood phenylalanine levels, and very poor dietary control. It appears that they have nearly normal brain phenylalanine levels despite high blood phenylalanine (Phe) levels....

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