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

3-Methylglutaconic Aciduria Type I Due to <i>AUH</i> 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 <i>AUH</i> gene, which encodes 3-methylglutaconyl-coenzyme A hydratase (MGH). To date, MGCA1 has been diagnosed in 19 subjects and has been associated wit...

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Bibliographic Details
Main Authors: Francesca Nardecchia, Anna Caciotti, Teresa Giovanniello, Sabrina De Leo, Lorenzo Ferri, Serena Galosi, Silvia Santagata, Barbara Torres, Laura Bernardini, Claudia Carducci, Amelia Morrone, Vincenzo Leuzzi
Format: Article
Language:English
Published: MDPI AG 2022-04-01
Series:International Journal of Molecular Sciences
Subjects:
3-methylglutaconyl-coenzyme A hydratase (MGH) deficiency
3-methylglutaconic aciduria type I
<i>AUH</i> defect
3-OH-isovalerylcarnitine
newborn screening
case report
Online Access:https://www.mdpi.com/1422-0067/23/8/4422

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