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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 supplementation.
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