Characterizing the frequency of clinical events and assessing biomarkers in propionic acidemia: a natural history study

Abstract Background Propionic acidemia (PA) is a rare disease resulting in toxic accumulation of metabolites that cause metabolic decompensation events (MDEs). Natural history characterization of PA is limited partly due to its rarity and complexity. This study examined clinical events in participan...

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Principais autores:	Bernd C. Schwahn, Gerard T. Berry, Hilary J. Vernon, Hong Li, J. Lawrence Merritt II, Manuel Schiff, Brigitte Chabrol, Javier De las Heras, Jerry Vockley, Chung Lee, Dwight D. Koeberl, Barbara K. Burton, Stephanie Grunewald, George A. Diaz, Can Ficicioglu, Thomas Morgan, Junxiang Luo, Husain Attarwala, Min Liang, Sue Perera, Vanja Sikirica
Formato:	Artigo
Idioma:	Inglês
Publicado:	BMC 2026-03-01
Series:	Orphanet Journal of Rare Diseases
Assuntos:	Propionic acidemia Propionyl-CoA carboxylase deficiency Metabolic decomposition events Biomarkers Clinical events 3-HP
Acceso en liña:	https://doi.org/10.1186/s13023-026-04251-3
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