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Genetic inability to convert phenylalanine to tyrosine increases blood levels of neurotoxic phenylalanine in patients with phenylketonuria (PKU). Unfortunately, adherence to the highly beneficial low-phenylalanine diet is problematic, especially in older children and adults. In an industry-sponsored, randomized, placebo-controlled trial, investigators examined therapeutic use of sapropterin dihydrochloride, a cofactor of the defective enzyme phenylalanine hydroxylase (PAH), in 89 patients (mean age, 20) whose blood phenylalanine levels were at least 450 μmol/L with limited dietary restriction. Sapropterin was taken daily for 6 weeks as a tablet dissolved in water or juice. Patients were instructed to continue their usual diets.
Significantly…