Propionic Acidemia Research

Propionic acidemia is an inborn error of metabolism affecting approximately 1/50,000 newborns in the United States annually. Gene therapy research is being conducted at two major US institutions to provide better treatments and ultimatly a cure for this disorder. PA individuals cannot metabolize methionine, threonine, isoleucine and valine correctly. Current treatment consists of adhering to a rigorous low-protein diet and biotin and carnitine su...

Keywords: medicine, energy, laboratory, glucose, carnitine, enzyme, calories, researchers, organic acidemia, Propionic acidemia