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Once-Fatal Metabolic Disorders Treatable, Says Stanford/Packard,Researcher

le outcome."

Alternative pathway therapy includes a combination of two drugs that work to help the body rid itself of excess nitrogen: sodium phenylacetate and sodium benzoate. Metabolic disease expert Saul Brusilow, MD, at Johns Hopkins' Children's Center, pioneered the drug combination in the 1970s as a possible treatment for urea cycle disorders. Although early reports showed promising results, it took years to gather enough patients to prove the treatment's effectiveness.

Prompt treatment does more than just save lives, however. It also protects patients' brains and gives them a chance at a normal life.

"Traditionally, the cognitive outcome of these disorders has been horrible," said Enns. "There were ethical arguments to be made about even trying to help these kids. The rationale was 'Why treat if you're going to be left with a child who can't do anything?' Now we've shown that we can save these kids."

He added, "Although there are still significant hurdles to overcome--in particular, timely diagnosis--at least we know that normal intelligence is possible. All is not lost when a family gets this diagnosis."

The study was supported by grants from the General Clinical Research Centers at Johns Hopkins University, Children's Hospital of Philadelphia, and Children's National Medical Center; grants from the National Institute of Child Health and Human Development, the Food and Drug Administration, the National Center for Research Resources, and through support of the national General Clinical Research Network.

Sodium phenylacetate and sodium benzoate are marketed for the treatment of urea cycle disorders by Ucyclyd Pharma under the trade name Ammonul. Enns has received a lecture fee from Ucyclyd Pharma and a consulting fee from Ucyclyd Pharma for service at one meeting of the advisory board of the company.

Stanford University Medical Center integrates research, medical education and patient care at its three instituti
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