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Article

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

International journal of molecular sciences - 16 Apr 2022

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

Abstract excerpt

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 clinical picture, ranging from no symptoms to severe encephalopathy with basal ganglia involvement. We report the case of...

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PMID: 35457240
DOI: 10.3390/ijms23084422
PMCID: PMC9029672

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Source receipt: pubmed, retrieved 7 Sept 2026.

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