3-methylglutaconic aciduria

Stable Identifier
R-HSA-9914274
Type
Pathway
Species
Homo sapiens
ReviewStatus
5/5
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3-methylglutaconic aciduria
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Mutations in AUH are associated with 3-methylglutaconic aciduria, a rare autosomal recessive disorder. AUH catalyzes the fifth step in the catabolism of leucine, the conversion of 3-methylglutaconyl-CoA to 3-hydroxy-methylglutaryl-CoA (Iljst et al, 2002; Ly et al, 2003; Mack et al, 2006). Mutations that affect AUH stability or function result in accumulation of metabolic intermediates such as 3-methylglutaconic acid, 3-methylglutaric acid and 3-hydroxyisovaleric acid that are excreted in urine (Duran et al, 1982; Ly et al, 2002; Mack et al, 2006; Nardecchia et al, 2022). The clinical presentation of 3-methylglutaconic aciduria is variable ranging from no-to-mild symptoms to severe encephalopathy, metabolic acidosis and coma (Nardecchia et al, 2022).
Literature References
PubMed ID Title Journal Year
12655555 Mutations in the AUH gene cause 3-methylglutaconic aciduria type I

Hoffmann, GF, Liesert, M, Buckel, W, Zschocke, J, Ensenauer, R, Wilcken, B, Gibson, KM, Peters, V, Ly, TB, Carpenter, K, Mack, M

Hum Mutat 2003
6181239 Inherited 3-methylglutaconic aciduria in two brothers--another defect of leucine metabolism

Duran, M, Wadman, SK, Beemer, FA, Tibosch, AS, Ketting, D, Bruinvis, L

J Pediatr 1982
12434311 3-Methylglutaconic aciduria type I is caused by mutations in AUH.

Duran, M, Lehnert, W, IJlst, L, Loupatty, FJ, Ruiter, JP

Am J Hum Genet 2002
16640564 Biochemical characterization of human 3-methylglutaconyl-CoA hydratase and its role in leucine metabolism

Hoffmann, GF, Liesert, M, Buckel, W, Zschocke, J, Schniegler-Mattox, U, Peters, V, Mack, M

FEBS J 2006
35457240 3-Methylglutaconic Aciduria Type I Due to AUH Defect: The Case Report of a Diagnostic Odyssey and a Review of the Literature

Carducci, C, Torres, B, Bernardini, L, Leuzzi, V, Giovanniello, T, Santagata, S, Galosi, S, Nardecchia, F, Ferri, L, Caciotti, A, De Leo, S, Morrone, A

Int J Mol Sci 2022
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Authored
Rothfels, K  (2024-07-29)
Reviewed
D'Eustachio, P  (2024-08-18)
Created
Rothfels, K  (2024-06-23)
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