Fatal metabolic stroke in a child with propionic acidemia 11 years post liver transplant.

Abstract excerpt

Propionic acidemia is a rare autosomal recessive inborn error of metabolism caused by a deficiency of propionyl CoA carboxylase which often manifests with frequent metabolic decompensations and risk of neurological injury. Outcomes with medical therapy remain suboptimal. Liver transplantation has been shown to be a therapeutic option for patients and results in a milder phenotype of the disease and partial...

Topics

Share this publication in a Topic to start or enrich a Post.

• Share to Child
• Share to Liver Transplantation