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, Dr. Mazariegos and a team of experts in genetics, pharmacology, biology, chemistry and other areas at Children's, worked in conjunction with metabolic experts fro
Contact: Melanie Finnigan
Children's Hospital of Pittsburgh