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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.

Updates To Nutrition Management Guidelines

The Nutrition Management Guideline for MSUD was first published in 2014. Since that time, there have been reports of new research and experiences that have prompted updates of the guideline.

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MSUD Awareness Day

Now more than ever before we are hearing about National Awareness Days which are set by organizations or the government to bring attention to issues of importance.

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Advocacy

As our legislators headed home for their August break, Rare Disease Legislative Advocates got busy.

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Cambrooke Foods Hosts Local Event

Cambrooke has been doing cooking demonstrations, social meet ups and educational events for patients, their families and the clinician’s that support them for many years.

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In The Professional Journals

A Patient with MSUD: Acute Management with Sodium Phenylacetate/Sodium Benzoate and Sodium Phenylbutyrate

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My Trip To Israel

I met Avi, Dikla, and Tamar Starr last year at the MSUD Symposium in Raleigh, NC. Tamar, classic MSUD, was 2 ½ at the time, and they invited me to come to Israel and stay with them for a year.

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A Child's Life

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