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Review Calls for Evidence-Based Approach to Phenylketonuria

Last Updated: July 13, 2010.

While there is agreement that early dietary management of phenylketonuria is essential for optimal cognitive development, there is little consensus on the aims of management of the disease after childhood or in use of new therapies, according to a review published online July 12 in Pediatrics.

TUESDAY, July 13 (HealthDay News) -- While there is agreement that early dietary management of phenylketonuria (PKU) is essential for optimal cognitive development, there is little consensus on the aims of management of the disease after childhood or in use of new therapies, according to a review published online July 12 in Pediatrics.

François Feillet, M.D., of the Centre de Référence des Maladies Héréditaires du Métabolisme in Vandoeuvre les Nancy, France, and colleagues conducted a review of the evidence for the management and treatment of PKU. The researchers looked for consensus in recommendations for diagnosing and managing this metabolic disorder.

The researchers found that, while consensus exists on the need for neonatal screening and early dietary management, there is disagreement about both the threshold level of blood phenylalanine for starting treatment and target blood phenylalanine levels after dietary management has begun. Although most treated children grow up with near-normal cognitive function, the effect of strict versus relaxed metabolic control on cognitive function later in life is still not fully known, and the management of older patients beyond childhood lacks consensus.

"The availability of new treatment strategies may address some of these challenges, such as continuing improvements in phenylalanine-free protein formulas and the recent introduction of sapropterin dihydrochloride into the management of the subset of patients with tetrahydrobiopterin-responsive PKU. There remains a clear need for a global consensus on the aims of treatment for PKU and the optimum strategies for achieving them," the authors write.

The study was supported by an educational grant from Merck Serono SA. Several authors disclosed financial relationships with Merck Serono SA and/or other pharmaceutical companies.

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