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Liver Transplants Cure Rare Ailment's Victims Maple Syrup Urine Disease Takes Away Normal Childhood

Posted on: Thursday, 27 October 2005, 03:00 CDT

WASHINGTON - Liver transplants seem to be curing about a dozen children of a rare disease so unforgiving that the slightest dietary misstep can prove brain-damaging or even fatal.

Now instead of a life of fear with every bite of a strict low- protein diet, these patients with maple syrup urine disease eat ice cream, hamburgers and other normal kid fare.

And doctors are studying whether the transplants don't just avert future problems but also might help children who already had suffered some brain damage to get a little better.

"Subjectively we're noting things like improved attention span, better speech, areas we are thrilled that are occurring," says Dr. George Mazariegos of Children's Hospital of Pittsburgh, who is about to publish in a medical journal the anxiously awaited first results of this dramatic new approach to treating the genetic disease.

As the mother of his first patient puts it: "It's a new life for us," says Susan Jasin of Alpha-retta, Ga., whose son Jakob, now 5, underwent the transplant in May 2004.

To survive, patients with maple syrup urine disease are put on a lifelong diet super-low in protein; many patients' primary nourishment is a special liquid formula. Because some protein is in most foods, restrictions on other fare go beyond no meat or dairy products. Jakob, for instance, liked potatoes, but his mother carried a scale to measure precisely the handful of french fries his body could tolerate.

Diet aside, even a minor illness that causes children not to eat on schedule can send them into seizures as their bodies break down stored protein.

Improved newborn screening is allowing treatment to start earlier, saving lives. But few patients reach adulthood without some neurologic delay or worse, says Dr. Mazariegos, who described his team's first 13 transplants at a recent pediatricians' meeting.

All the patients began eating a regular diet within days of surgery, and their bodies are normally processing protein, Dr. Mazariegos reported. Five had mild symptoms of organ rejection, controlled with medication.

Any age after 1 seems OK to operate, he says. The median age of his patients is 6; the youngest was 1 1/2 and the oldest 20.

Source: Augusta Chronicle, The

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