First-Ever Liver Transplant to Treat AHCY Deficiency Performed

S-Adenosylhomocysteine hydrolase (AHCY) deficiency is a rare congenital disorder Mazariegosaffecting <1 in 1,000,000 children worldwide.  Currently, there have been 8 diagnosed cases, with 6 individuals living with the disorder. With this illness, a genetic mutation in the liver doesn’t allow the body to process protein.

At Children’s Hospital of Pittsburgh of UPMC, the first-ever liver transplant to treat this disorder was performed on a 3-year-old patient from Lancaster County, Pennsylvania.  McGowan Institute for Regenerative Medicine affiliated faculty member George Mazariegos, MD, and a team of surgeons replaced the young girl’s liver with one quarter of a liver from a non-related donor. This surgery will give Kennedy an opportunity for a better life.

“It will grow with her,” said Dr. Mazariegos, a pediatric liver and intestine transplant surgeon and the Director of the Hillman Center for Pediatric Transplantation at the Children’s Hospital of Pittsburgh of UPMC, the Jamie Lee Curtis Endowed Chair in Transplantation Surgery, and a Professor of Surgery with joint appointments in Pitt’s Departments of Anesthesiology and Critical Care Medicine. “It will continue to adjust to her needs, and provide all of the liver function, and in this case, all the critical enzyme function that she was missing.”

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