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For Immediate Release

Patients and Families Reunite With Doctors at Children's Hospital of Pittsburgh's Second Annual Maple Syrup Urine Disease Symposium


WHAT: Children's Hospital of Pittsburgh is hosting its Second Annual Symposium on Transplantation for Maple Syrup Urine Disease (MSUD). The families of patients who once suffered from this life-threatening genetic disease will reunite with their physicians and other caregivers at this daylong event. Children's MSUD patients who have received liver transplants have been metabolically cured of the disease.

Several physicians will make presentations about advancements in the treatment of MSUD patients. In 2004, Children's developed the world's first protocol for performing liver transplants in MSUD patients. This protocol led to 18 patients receiving liver transplants at Children's, the most of any center in the world. Children's comprehensive protocol included the development of specialized computerized order sets (which direct the transplant team every step of the process); the establishment of a completely sterile room needed to mix amino acids for MSUD patients in the event of a metabolic crisis; and specific formulas called total parenteral nutrition (TPN) mixed to each individual patient based on his/her amino acid levels.

WHO: More than 70 people are expected to attend the symposium, including MSUD patients and their families, and caregivers from Children's, the Clinic for Special Children in Strasburg, Pa., and the University of California San Diego School of Medicine.

Children's physicians presenting at the symposium are: George V. Mazariegos, MD, director of Pediatric Transplantation; Gerard Vockley, MD, PhD, chief of Medical Genetics; and Hilary Feldman, PhD, of the Child Development Unit.

WHY: MSUD is a metabolic disease that causes amino acids to accumulate in the body. The disease gets its name from the sweet smell of the urine. This accumulation can cause metabolic crisis, which can lead to brain swelling, stroke and sudden death. Before transplant, the only treatment was adherence to a strict diet almost devoid of protein. Despite this diet, patients are still at risk from something as simple as a cold.

In April 2006 in the American Journal of Transplantation, physicians from Children's and the Clinic for Special Children in Strasburg, Pa., reported results of liver transplants for Children's first 11 MSUD patients. The patients' amino acid levels stabilized within six-12 hours of transplant and have remained stable since despite unrestricted intake of protein.

WHEN: 11:30 a.m. - 2 p.m.
Friday, May 19, 2006

WHERE: Wyndham Garden Hotel
3454 Forbes Ave., Pittsburgh, PA

Editor's Note: Children's physicians and families of MSUD patients are available for

Marc Lukasiak or Melanie Finnigan, 412-692-5016, or

Last Update
June 17, 2008
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Last Update
June 17, 2008