Description: 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 supplementation.
Keywords: Propionic acidemia,research,metabolism,low-protein,researchers,gene therapy,biotin-containing,enzyme,PCC,carnitine,biotin,glucose,calories,energy,university,academics,medicine,laboratory
Health Conditions and Diseases Nutritional and Metabolic Disorders Inherited Propionic Acidemia 网站
2024年11月18日