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National Standards Issued for Diagnosing, Treating PKU

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But further research is needed concerning the roughly 2% of patients with PKU who do not develop mental retardation despite not being treated, Howell concedes. States also should be encouraged to keep better data to aid in the development and testing of new treatments, and health officials should be encouraged to treat the diet as a medical necessity so that families can defray the costs, he says.

New treatment options are being studied, and experts believe there may someday be a genetic treatment to replace the diet. In the meantime, despite some doctors' reluctance to sign on, the standards are likely to be adopted by many pediatricians and states, Howell says.

Physicians are not bound by the standards, but studies done before and after other consensus conferences have shown that they can affect the diagnosis, treatment, and management of diseases and disorders, he says. Such standards also can influence insurance reimbursement policies, thus indirectly affecting doctors' behavior.

"We hope very much that it will have an impact," says William Rizzo, MD, a member of the panel and a professor of pediatrics and human genetics at the Medical College of Virginia in Richmond.

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