Parents of children with MSUD from this region of Pennsylvania dedicated much time and energy as hosts of the two day meeting held at the Willow Valley Resort, located a short distance from the Clinic. The Symposium provided opportunity for parents and physicians to present and discuss the latest in research and treatment protocols, for teenagers to discuss their issues together and for younger children to simply have fun.
Dr. Holmes Morton's lecture to open the meeting entitled "Progress, Problems, and Promises" gave an overview of the evolution of treatment of MSUD for Mennonite families in Lancaster County. He introduced the first draft of a Manual for Care for MSUD based on the Clinic's ten year experience and approach of diagnosis and care of 30 neonates and 60 patients who range in age from a few months to 33 years. The manual is intended for use by physicians and parents and will be revised for a more complete version during the coming year.
Other speakers included Dr. Harvey Levy, Harvard Medical School and Boston Children's Hospital, who presented an update on newborn screening for MSUD in the U.S.; Dr. Vivian Shih, Harvard Medical School and Massachusetts General Hospital, discussed how neonates and children with MSUD are managed in centers in other regions of the U.S. as well as other countries; Dr. Phyllis Acosta, Director of Metabolic Diseases for Ross Products Division discussed formulas and special foods necessary to children and MSUD and Dr. Neil Buist, Professor of Pediatrics at Oregon Health Sciences University in Portland, assessed nutritional problems associated with MSUD's very restrictive diet and how certain problems can be prevented. In a second lecture Dr. Morton analyzed effects of MSUD on the brain such as cerebral edema, muscle weakness, appetite and sleep patterns, and the development of myelin. Contrasting MRI images with clinical observations he gave all of us a greater understanding of the complex involvement of the brain in this disorder and provided parents, children and practitioners a frame of reference for their daily observations. In other presentations, the liver transplant and progress of a 7 yr. old MSUD patient with liver failure due to vitamin A toxicity was described by Dr. Morton and by Dr. Paige Kaplan, metabolic specialist of Children's Hospital of Philadelphia where the transplant was preformed. This experience demonstrated there are possibilities of "curing" MSUD with correction through the liver. Dr. George Mazariegos of the Thomas Starzl Transplant Institute in Pittsburgh described all that is involved with liver transplant. Transplant bears high risks and requires lifelong medication to prevent rejection.
Dr. Richard Kelley, Kennedy Krieger Institute & Johns Hopkins and the Clinic, discussed the nature of metabolic diseases in light of recent developments in the field of gene therapy. Dr. Rody Cox, Dean and Professor of Internal Medicine at the University of Texas, Dallas, outlined progress of gene repair by viral vectors and insertion of new genes. The final presentation of the symposium revealed the promise of a new approach to gene therapy called chimeraplasty, presented by Dr. Michael Blaese, Chief, Clinical Gene Therapy Branch of NIH. In chimeratherapy, gene correction is achieved through infusion by IV of a chimera gene which corrects the abnormal gene sequence in the liver of MSUD patients (also potentially in Crigler-Najjar patients). With low risk to the patient, this therapy has the potential to be effective for infants as well as older children. Dr. Blaese, the Kimeragen Company, and the Clinic hope to begin trials within a year
- Reprinted from the Clinic for Special Children Newsletter (Spring 1998)