LA VITA É UN DONO Odv | "Secondo me la vita può essere definita un dono che ci viene dato da Dio e dagli altri e noi dobbiamo vi
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.
research (8562) metabolism (186) enzyme (138) pcc (132) researchers (99) gene therapy (60) low-protein (13) carnitine (5) propionic acidemia (1) biotin-containing (1)
Please join us in our mission to find those individuals and to support their research efforts!
Understanding Propionic Acidemia Today: Finding New Treatment Options Fortunately PA patients today have specially calibrated low-protein formulas which are the basis of metabolic regulation. Unfortunately, this type of metabolic control is tentative at best and relies on constant vigilance for PA's to remain stable. The threat of decompensation is ongoing, resulting in tremendous amounts of work for caregivers. Enzyme replacement therapy is unavailable for PA, as a functional delivery method has not been
© 2012 Propionic Acidemia Research Network. All rights reserved .
LA VITA É UN DONO Odv | "Secondo me la vita può essere definita un dono che ci viene dato da Dio e dagli altri e noi dobbiamo vi