Children's Hospital of Pittsburgh has developed a comprehensive, multidisciplinary medical protocol for performing liver transplants in patients with Maple Syrup Urine Disease ( MSUD ).

One year ago, Children's Hospital of Pittsburgh became the first and only transplant center in the world to develop a comprehensive, multidisciplinary medical protocol for performing liver transplants in patients with Maple Syrup Urine Disease ( MSUD ).
Today, seven children who suffered from the debilitating and life-threatening disease have been transplanted and are now free from symptoms.

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.

For the first time in these young patients' lives, they are able to go on vacation without fear of metabolic crisis and to eat foods, like ice cream and chicken nuggets, that normal children enjoy. All of the seven patients with MSUD who have been transplanted at Children's are showing excellent results.

Jakob Jasin, now 5, son of Chris and Susan Jasin of Fairfax, became the first patient with MSUD to be transplanted at Children's on May 30, 2004.
Jakob, who was 4 when transplanted and named his new liver "Tommy," is now free from the symptoms of the disease. 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.

" 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," said George V. Mazariegos, at the University of Pittsburgh School of Medicine. " Suffering from MSUD may significantly impact the quality of life for both the child and the parents. These parents live each day with the fear that a simple cold could send their child into metabolic crisis and be fatal."

Jakob's amino acid levels now are normal, despite a normal protein intake, indicating that his new liver is properly metabolizing the amino acids that used to accumulate in his body. Susan Jasin said Jakob's transplant has changed their lives forever.

" 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 one too many french fries, or because he got a little cold," said Susan Jasin, Jakob's mother. " We knew transplant surgery had risks, but the alternative was a life that could end at any moment for my son. I could not bear to live another day like that."

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. Should a patient with MSUD become sick with even a minor viral illness, the body will break down protein stored in muscle for energy. The amino acids released from the child's protein stores can be as deadly as those from the diet.

A multi-disciplinary approach to treatment and surgery was utilized to plan for every conceivable situation to ensure the child remained healthy up until the moment of the transplant. To develop the MSUD transplant protocol, Mazariegos and 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.

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.

Source: Children's Hospital of Pittsburgh, 2005


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