3-Methylglutaconic Aciduria Type I Due to AUH Defect: The Case Report of a Diagnostic Odyssey and a Review of the Literature.
Nardecchia F, Caciotti A, Giovanniello T, De Leo S, Ferri L, Galosi S, Santagata S, Torres B, Bernardini L, Carducci C, Morrone A, Leuzzi V.
Nardecchia F, et al.
Int J Mol Sci. 2022 Apr 16;23(8):4422. doi: 10.3390/ijms23084422.
Int J Mol Sci. 2022.
PMID: 35457240
Free PMC article.
Review.
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). ...We report the case of a 31-month-old female child referred to our …
3-Methylglutaconic aciduria type I (MGCA1) is an inborn error of the leucine degradation pathway caused by pathogenic variants in the …