© 2019 Tyrosinemia Society, Inc.

Dr. Patrick McKiernan, MD

Medical/Scientific Advisory Board Member

Patrick McKiernan, MD, always knew he wanted to be a pediatrician. As a medical student in his native Belfast, Northern Ireland, in the 1980s, he recalls being struck by the “sheer courage” of children with serious illnesses. “It’s remarkable how quickly they recover from the blows life brings them,” he says. “They don’t complain – they just get on with recovering.” His introduction to pediatric liver diseases came around the time liver transplantation for children was just becoming available. “I remember one patient who wasn’t considered a candidate for a liver transplant at that time, and he sadly died. That spurred my interest in making liver transplantation available to a wider range of children. One of the metabolic liver diseases in which Dr. McKiernan has taken a special interest is Tyrosinemia, an inherited disorder caused by an enzyme deficiency that prevents the body from breaking down tyrosine, a building block of proteins. Without treatment, Tyrosinemia can cause liver and kidney failure, stunt intellectual development, and increase risk for liver cancer. Tyrosinemia can be treated with liver transplantation, but since the 1990s treatment with the drug nitisinone has enabled many children with Tyrosinemia to avoid transplantation. Research by Dr. McKiernan and his colleagues has shown that children with Tyrosinemia do better when the disease is identified and drug treatment initiated before they develop symptoms. In a study published in 2014, Dr. McKiernan and his team found that children whose Tyrosinemia was identified at birth through newborn screening and started on nitisinone developed normally and showed no signs of liver or kidney disease. Dr. McKiernan has moved to Pittsburgh to join the liver diseases team at UPMC Children's Hospital of Pittsburgh and oversee the care of patients with metabolic liver diseases as the director of the Pediatric Hepatology Program and has graciously agreed to serve on the Tyrosinemia Society medical/scientific advisory board.