Transplantee families enjoyed an informal gathering at the Residence Inn, sharing information and stories.
Patients and families reunited with doctors and other caregivers at Children’s Hospital of Pittsburgh’s (CHP) Second Annual Maple Syrup Urine Disease Symposium held on May 19th, 2006 at the Wyndham Garden Hotel in Pittsburgh.

Several physicians made presentations about advancements in the treatment of MSUD patients. In 2004, CHP 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. CHP’s comprehensive protocol includes 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) formulas in the event of a metabolic crisis.

More than 70 people attended the symposium, including many transplanted MSUD patients and their families, caregivers from CHP, the Clinic for Special Children in Strasburg, Pa., and the University of California San Diego School of Medicine. Presentations where made by: George V. Mazariegos, MD, director of Pediatric Transplantation; Gerard Vockley, MD, PhD, chief of Medical Genetics; Hilary Feldman, PhD, of the Child Development Unit, Kevin Strauss, MD of the Clinic for Special Children and Ajai Khanna, MD, of University of Cailfornia, San Diego. Time was set aside for questions and answers following each presentation.

Elan Geffen, transplanted 1/17/06, celebrated his 22nd birthday with friends while attending the MSUD Transplant Symposium.
Physicians from Children’s and the Clinic for Special Children in Strasburg, Pa. reported on results of liver transplants for Children’s first 11 MSUD patients in April 2006 in the American Journal of Transplantation. The patients’ amino acid levels stabilized within six-12 hours of transplant and have remained stable since despite unrestricted intake of protein.


The MSUD Family Support Group is currently funding several research projects and we are proactively looking for researchers interested in developing new treatments or finding a cure for MSUD. Significant funding is necessary if we are to accomplish this goal.
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