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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

Learn about Saleh's experience with Propionic Acidemia at Children's Hospital.

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 Patient Story

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

Learn more about Naldyshka's experience with Crigler-Najjar at Children's Hospital.

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

Learn more about Jakob's experience with Maple Syrup Urine Disease at Children's Hospital.

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

Learn more about Leah's experience with Maple Syrup Urine Disease at Children's Hospital.

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

Boy Testimonial

Learn more about Laurence Reiff and his treatment for Maple Syrup Urine Disease at UPMC Children's Hospital of Pittsburgh.

Read Laurence's story