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An 'elegant' idea proves its worth 25 years later

980 until March 2005.

The regimen consisted of high-dose intravenous sodium phenylacetate and sodium benzoate for two hours followed by "maintenance infusions" until blood ammonia levels were normal. The patients’ overall survival rate was 84 percent, and 96 percent survived episodes of severe ammonia poisoning.

An estimated one in 40,000 live births is a child with a urea cycle disorder, according to Hamosh, who says early and accurate detection can now assure prompt treatment.

"We’re teaching all medical students at Hopkins to consider hyperammonemia and immediately do blood tests when they see a combative, lethargic or comatose newborn or child," she says. "The longer the hyperammonemia lasts, the higher the risk for brain damage."

"This is a happy story," says Brusilow. "It isn’t too often in genetic medicine that we can intuitively develop a treatment with already available chemicals and save lives."
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Source:Johns Hopkins Medical Institutions


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