Drug Combo Overcoming Rare Genetic Disorders

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Other treatments, including kidney dialysis, can also be used. In very severe cases of the condition, "the standard of care now is to get the young patients big enough for a liver transplant," Hamosh said. Persons with mild forms of the disorders can survive for many years on the two medications, which now are available in a combination product approved by the U.S. Food and Drug Administration.

"The data set in this paper is what was presented to get FDA approval of the drug," Hamosh said. The paper was published in the journal this week because of a report from Europe two years ago that showed worse results there than in the United States, indicating that some doctors were not familiar with the treatment, she said.

There are indications that cases are still being missed in the United States as well, because of the elusive nature of the disorder, Enns said. Often, there is no specific set of symptoms that mark a child with a disorder of the urea cycle, he said, "and in my personal experience, the thing that makes the most difference is to identify it quickly."

If tests show that a child is carrying high levels of ammonia, "you typically start [him or her] on medication," Enns said. "If the ammonia level comes down nicely, that often is enough, with no need for dialysis."

More information

More information on urea cycle disorders is available at the National Urea Cycle Disorders Foundation.