Article
Heart and heart-liver transplantation in Amish patients with propionic acidemia.
Nutrition, metabolism, and cardiovascular diseases : NMCD - 1 May 2026
Whitehead Evan H, Bennett Jeffrey, Bhat Pavan, Bhattacharya Sanjeeb, Erwin Angelika L, Hoffman Karlee, Hsich Eileen, Kafil Tahir S, Khalil Mazhar, Lee Ran, Mountis Maria M, Rodriguez E Rene, Soltesz Edward G, Tan Carmela, Tong Michael Z, Tramontana Timothy F, Zaki Anthony, Tang W H Wilson
Abstract excerpt
BACKGROUND AND AIM: Propionic acidemia (PA) is a genetic metabolic disorder caused by deficient activity of the enzyme propionyl-CoA carboxylase, resulting in accumulation of toxic metabolites during catabolism of odd-chain fatty acids and branched-chain amino acids. Most PA occurs in compound heterozygotes, typically presenting with metabolic acidosis and seizures in infancy. A milder phenotype of PA is...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.