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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). ...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 …
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 adulthood. Here we rep …
3-Methylglutaconic aciduria is a member of inborn errors of leucine metabolism pathway. 3-Methylglutaconic aciduria type I (MG …
Molecular mechanism of dominant expression in 3-methylcrotonyl-CoA carboxylase deficiency.
Baumgartner MR. Baumgartner MR. J Inherit Metab Dis. 2005;28(3):301-9. doi: 10.1007/s10545-005-7054-3. J Inherit Metab Dis. 2005. PMID: 15868465 Free article. Review.
Patients with MCC deficiency have a characteristic organic aciduria with greatly increased excretion of 3-hydroxyisovaleric acid (3-HIVA) and 3-methylcrotonyl-glycine (3-MCG). ...
Patients with MCC deficiency have a characteristic organic aciduria with greatly increased excretion of 3-hydroxyisovaleric
Biotin deficiency in an infant fed with amino acid formula.
Fujimoto W, Inaoki M, Fukui T, Inoue Y, Kuhara T. Fujimoto W, et al. J Dermatol. 2005 Apr;32(4):256-61. doi: 10.1111/j.1346-8138.2005.tb00758.x. J Dermatol. 2005. PMID: 15863846 Review.
Urinary excretion of 3-methylcrotonylglycine, 3-hydroxyisovaleric acid, and methylcitric acid was significantly elevated. Daily oral supplementation with 1 mg of biotin resulted in dramatic improvement of the periorificial dermatitis and hair growth together with a …
Urinary excretion of 3-methylcrotonylglycine, 3-hydroxyisovaleric acid, and methylcitric acid was significantly elevated. Dail …