3-Methylglutaconic Aciduria Type I Due to AUH Defect: The Case Report of a Diagnostic Odyssey and a Review of the Literature

3-Methylglutaconic aciduria type I (MGCA1) is an inborn error of the leucine degradation pathway caused by pathogenic variants in the AUH gene, which encodes 3-methylglutaconyl-coenzyme A hydratase (MGH). To date, MGCA1 has been diagnosed in 19 subjects and has been associated with a variable clinic...

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Detalles Bibliográficos
Autores principales: Nardecchia, Francesca, Caciotti, Anna, Giovanniello, Teresa, De Leo, Sabrina, Ferri, Lorenzo, Galosi, Serena, Santagata, Silvia, Torres, Barbara, Bernardini, Laura, Carducci, Claudia, Morrone, Amelia, Leuzzi, Vincenzo
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2022
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9029672/
https://www.ncbi.nlm.nih.gov/pubmed/35457240
http://dx.doi.org/10.3390/ijms23084422

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