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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). ...
3-Methylglutaconic aciduria type I (MGCA1) is an inborn error of the leucine degradation pathway caused b …
Early infantile presentation of 3-methylglutaconic aciduria type 1 with a novel mutation in AUH gene: A case report and literature review.
Tavasoli AR, Shervin Badv R, Zschocke J, Ashrafi MR, Rostami P. Tavasoli AR, et al. Brain Dev. 2017 Sep;39(8):714-716. doi: 10.1016/j.braindev.2017.04.007. Epub 2017 Apr 21. Brain Dev. 2017. PMID: 28438368 Review.
3-Methylglutaconic aciduria is a member of inborn errors of leucine metabolism pathway. 3-Methylglutaconic aciduria type I (MGA1) causes neurological problems which are present during infancy or childhood but the diagnosis may be delayed until a …
3-Methylglutaconic aciduria is a member of inborn errors of leucine metabolism pathway. 3-Methylglutaconic aciduria …