3-Methylglutaconic Aciduria Type I


3-Methylglutaconic aciduria type 1 (3-Methylglutaconicaciduria; Aciduria, 3-methylglutaconic type I) is an autosomal recessive disease caused by a mutation in the AUH gene which codes for methylglutaconyl-CoA hydratase. A deficiency in this enzyme results in accumulation of 3-hydroxyisovaleric acid, 3-methylglutaconic acid, and methylglutaric acid in urine. Symptoms include hypoglycemia, low birth weight, coma, seizures, and mental retardation. Treatment includes a low protein diet.

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References

  1. OMIM: Entry 250950
  2. Uniprot: Q13825
  3. Wikipedia: 3-Methylglutaconic aciduria type 1
  4. Engelke, U., van der Graaf, M., Heerschap, A., Hoenderop, S., Moolenaar, S., Morava, E., Wevers, R. (2007). Handbook of 1H-NMR spectroscopy in inborn errors of metabolism: body fluid NMR spectroscopy and in vivo MR spectroscopy (pp 71) (2nd ed). Heilbronn: SPS Verlagsgesellschaft
  5. Duran M, Beemer FA, Tibosch AS, Bruinvis L, Ketting D, Wadman SK: Inherited 3-methylglutaconic aciduria in two brothers—another defect of leucine metabolism. J Pediatr. 1982 Oct;101(4):551-4. Pubmed
  6. Gibson KM, Sherwood WG, Hoffman GF, Stumpf DA, Dianzani I, Schutgens RB, Barth PG, Weismann U, Bachmann C, Schrynemackers-Pitance P, et al.: Phenotypic heterogeneity in the syndromes of 3-methylglutaconic aciduria. J Pediatr. 1991 Jun;118(6):885-90. Pubmed
  7. IJlst L, Loupatty FJ, Ruiter JP, Duran M, Lehnert W, Wanders RJ: 3-Methylglutaconic aciduria type I is caused by mutations in AUH. Am J Hum Genet. 2002 Dec;71(6):1463-6. Epub 2002 Nov 14. Pubmed
  8. Shoji Y, Takahashi T, Sawaishi Y, Ishida A, Matsumori M, Shoji Y, Enoki M, Watanabe H, Takada G: 3-Methylglutaconic aciduria type I: clinical heterogeneity as a neurometabolic disease. J Inherit Metab Dis. 1999 Feb;22(1):1-8. Pubmed