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For Immediate Release

Children's Hospital of Pittsburgh Developing Liver Transplantation as a Potential Cure for Life-Threatening Metabolic Disease

Children's performs one of world's few transplants with first-of-its kind protocol

Children's Hospital of Pittsburgh has become the first transplant center in the world to develop a comprehensive, multidisciplinary medical protocol for performing liver transplants in patients withMaple Syrup Urine Disease (MSUD). Children's surgeons subsequently have performed two transplants on patients with this potentially deadly metabolic disease - both showing excellent results.

Jakob Jasin, 4, son of Chris and Susan Jasin of Fairfax, Va., became the first patient with MSUD to be transplanted at Children's on May 30, 2004, and now is free from the symptoms of the disease. For the first time in his life, Jakob is eating protein-rich foods - including ice cream and chicken nuggets - without suffering from metabolic crises as he had in the past.

Grace Haddad, 3, daughter of Jay and Oula Haddad of Silver Spring, Md., also had MSUD. She was transplanted at Children's last month and has not had any symptoms since.

MSUD is a metabolic disorder that causes amino acids from proteins to accumulate in the body, which can have a toxic effect and lead to brain swelling, neurological damage and death. MSUD derives its name from the sweet smell of the urine.

Jakob was discharged from Children's 11 days after his transplant - approximately six months after Children's established a comprehensive protocol that provides guidelines and safety nets for MSUD transplantation.

"To our knowledge, Jakob represents only the sixth successful liver transplant in the world for a patient with MSUD, said George V. Mazariegos, MD, director of Pediatric Transplantation at Children's and one of Jakob's transplant surgeons. "Without this transplant, Jakob would have followed a strict diet for the rest of his life, and even then, he was still at risk for going into metabolic crisis and suffering irreparable brain damage. Our results show that liver transplantation may be a cure for this disease and Jakob can now be a normal 4-year-old."

Blood tests taken before, during and after Jakob's transplant show his amino acid levels now are normal, indicating thathis new liver is properly metabolizing the amino acids that used to accumulate in his body, according to Robert H. Squires Jr., MD, clinical director of Gastroenterology and Hepatology at Children's.

"When I saw other parents of kids with MSUD grieving over the loss of their child, I knew then I could not bear to lose Jakob. I could not watch him suffer brain damage because he accidentally ate something he shouldn't have, or because he got a cold," Susan Jasin said. "We understood the risks of transplant surgery, but the alternative was a poor quality of life and a life that could end at any moment."

People suffering from MSUD are unable to metabolize the branched-chain amino acids leucine, isoleucine and valine, which are present in all protein foods such as meat, eggs and milk. The only treatment - up until transplant - had been a rigorous diet to severely restrict these amino acids. However, even strict adherence to this diet does not ensure that the patient will not go into metabolic crisis, according to Dr. Squires. Should a patient with MSUD become sick with even a minor viral illness, the body will break down protein stored in muscle for energy. Dr. Squires added that, unfortunately, the amino acids released from the child's protein stores can be as deadly as those from the diet.

"Because kids with MSUD potentially can lead healthy lives if they adhere to a strict diet, we needed to make sure we weren't taking unnecessary risks by transplanting them," Dr. Squires said. "So we planned for every conceivable situation to ensure the child remained healthy up until the moment of the transplant."

To develop the MSUD transplant protocol, Drs. Squires and Mazariegos, along with a team of experts in genetics, pharmacology, biology, chemistry and other areas at Children's, worked in conjunction with metabolic experts from the Clinic for Special Children in Strasburg, Pa.

Children's established computerized order sets - which tell the transplant team how to proceed during every step of the transplant.

The hospital also set up a completely sterile room where raw amino acid powders can be prepared quickly in case there are complications from transplantation and the patient goes into metabolic crisis.

For each MSUD patient, Children's is prepared to make specific total parenteral nutrition (TPN) formulas based on a patient's amino acid levels. The formulas will be different for each patient and must be mixed precisely to ensure that the patient receives exactly the correct amino acids to avoid metabolic crisis. TPN is a special mixture of glucose, protein, fat, vitamins and minerals given through an intravenous tube into the veins.

No other hospital in the country has set up a protocol with these protective guidelines and safety precautions.

"We set up this protocol knowing there was a strong possibility the transplant would go flawlessly and Jakob would have a great outcome, and that's exactly what happened," Dr. Mazariegos said. "But medically, it is the appropriate thing to do. Our patients' safety and well-being is always of the utmost importance. At this stage, our results are encouraging and over time, this may prove to be a cure."

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

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