Great Solution

Imagine a lifelong diet so restrictive that you can’t eat meat or dairy. Even vegetables must be rationed. The stakes are high, since a dietary misstep can lead to brain damage or death. That’s been the reality for people with Maple Syrup Urine Disease (MSUD), an inherited genetic disorder that prevents the body from processing certain amino acids found in proteins.

 MSUD is rare — affecting less than one in 200,000 children — and dangerous. Even the severe diet can’t prevent a minor illness from potentially triggering a fatal metabolic crisis. But a cure now exists, in the form of liver transplants performed at Children’s Hospital of Pittsburgh of UPMC. 

A new liver gives MSUD patients the enzymes necessary to process proteins. About a decade ago, the transplant center at Children’s — under the direction of Dr. George Mazariegos, director of pediatric transplantation — developed the world’s first comprehensive, multidisciplinary medical protocol for performing these transplants for MSUD patients. “This program really constitutes a medical breakthrough,” Dr. Mazariegos says. Late last year, 15-year-old Crystal Martin of Lancaster County became the 50th MSUD patient whose life was improved by a liver transplant at Children’s. 

Before the operation, Crystal’s disorder had a significant impact on her whole family, says her mother, Lorraine. “Starting with the food restrictions — she could hardly eat anything. And we’d always have to worry about her amino-acid levels. If they went up, she wouldn’t feel well. She got sick easily and missed so much school — it affected her ability to think clearly, too. We [also] had a cloud hanging over us of possible brain damage.” Crystal’s family heard about the transplant option at a symposium Children’s hosted at the Clinic For Special Children, a genetic-disorders treatment center near their home. “I was privileged to collaborate with a remarkable team of people in the development of this program,” says Dr. Mazariegos. 

The group includes geneticists, gastroenterologists, hepatologists and metabolic specialists from Children’s and the Clinic For Special Children. “Experts from different institutions working together isn’t that common,” Dr. Mazariegos explains, “but these colleagues put individual and institutional goals behind the shared goal of what would be best for the patients.” Transplant surgery for MSUD patients differs from conventional transplant procedures in several ways, including routine surgical issues. “There’s the potential for serious metabolic and neurological crises during and after surgery if we’re not very careful,” explains Dr. Mazariegos, “so we developed contingency plans for everything.” On Nov. 27, the Martins were notified via phone that a donor liver was available. Crystal underwent a successful transplant at Children’s the next day. “She can’t stop telling everyone how happy she is,” says Lorraine. “It’s a miracle how this changed things. She says her mind is totally clear, and she’s really eating for the first time — she never knew what meat, eggs or pizza tasted like! We’re so appreciative of that awesome hospital and so grateful to the donor’s family. We can’t thank them enough.” 

 Performing 50 successful MSUD transplants is precisely what Dr. Mazariegos had planned. “We feel a high degree of responsibility with this program,” he says. “Any misstep could impact subsequent patients, as well as the transplant field as a whole. It’s exciting to see these transplants lead to dramatic changes for MSUD patients, their families and communities.”