Metabolic Disease Patient Stories

At UPMC Children’s Hospital of Pittsburgh, our greatest reward comes when we restore children to the lives they were meant to be living. Here, we share some of their triumphs.

Read the stories of some kids — maybe just like you or your child — who overcame metabolic disease.

Propionic Acidemia – Liver Transplant
Saleh suffered from propionic acidemia, a metabolic disorder. He traveled from Qatar to UPMC Children's Hospital of Pittsburgh to receive a living-donor liver transplant procedure.
Read Saleh's Story >>
AdoHcy Deficiency – Liver Transplant
Kennedy suffered from AdoHcy deficiency. She received a living-donor liver transplant from a family friend. Read more about her experience at UPMC Children's Hospital of Pittsburgh.
Read Kennedy's Story >>
Crigler-Najjar – Liver Transplant
Puerto Rico native Naldyshka suffered from Crigler-Najjar syndrome and received a liver transplant from her father. Learn more about her experience at UPMC Children’s Hospital of Pittsburgh.
Read Naldyshka's Story >>
Maple Syrup Urine Disease – Liver Transplant
Jakob suffered from maple syrup urine disease. Read about his liver transplant procedure and experience at UPMC Children's Hospital of Pittsburgh.
Read Jakob's Story >>
Maple Syrup Urine Disease – Center for Rare Disease
Leah suffered from Maple Syrup Urine Disease. Read about her experience at UPMC Children’s Hospital of Pittsburgh.
Read Leah's Story >>
Maple Syrup Urine Disease
Learn more about Laurence Reiff and his treatment for Maple Syrup Urine Disease at UPMC Children's Hospital of Pittsburgh.
Read Laurence's Story >>