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Pathway Description
Glutaric Aciduria Type I
Homo sapiens
Disease Pathway
Glutaric Aciduria Type 1 is a rare autosomal recessive disease caused by a mutation in the GCDH which codes for glutaryl-CoA dehydrogenase. A deficiency in this enzyme results in accumulation of 3-hydroxybutyric acid, 3-hydroxyglutaric acid, glutaconic acid, glutaric acid, and ketone bodies in urine. Symptoms include encephalopathy, grimacing, dystonia, metabolic acidosis, and hygroma. Treatment includes a low-protein diet, L-carnitine, riboflavin, and anticonvulsants.
References
Glutaric Aciduria Type I References
[Wikipedia: Glutaric aciduria type 1](http://en.wikipedia.org/wiki/Glutaric_aciduria_type_1)
[Uniprot: Q92947](http://www.uniprot.org/uniprot/Q92947)
[OMIM: Entry 231670](http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=231670)
Engelke, U., van der Graaf, M., Heerschap, A., Hoenderop, S., Moolenaar, S., Morava, E., Wevers, R. Handbook of 1H-NMR spectroscopy in inborn errors of metabolism: body fluid NMR spectroscopy and in vivo MR spectroscopy (2nd ed) (2007) p.44 Heilbronn: SPS Verlagsgesellschaft
Amir N, el-Peleg O, Shalev RS, Christensen E: Glutaric aciduria type I: clinical heterogeneity and neuroradiologic features. Neurology. 1987 Oct;37(10):1654-7.
Pubmed: 3658174
Biery BJ, Stein DE, Morton DH, Goodman SI: Gene structure and mutations of glutaryl-coenzyme A dehydrogenase: impaired association of enzyme subunits that is due to an A421V substitution causes glutaric acidemia type I in the Amish. Am J Hum Genet. 1996 Nov;59(5):1006-11.
Pubmed: 8900227
Hedlund GL, Longo N, Pasquali M: Glutaric acidemia type 1. Am J Med Genet C Semin Med Genet. 2006 May 15;142C(2):86-94. doi: 10.1002/ajmg.c.30088.
Pubmed: 16602100
Zschocke J, Quak E, Guldberg P, Hoffmann GF: Mutation analysis in glutaric aciduria type I. J Med Genet. 2000 Mar;37(3):177-81.
Pubmed: 10699052
[Uniprot: Q9HAC7](http://www.uniprot.org/uniprot/Q9HAC7)
Knerr I, Zschocke J, Trautmann U, Dorland L, de Koning TJ, Muller P, Christensen E, Trefz FK, Wundisch GF, Rascher W, Hoffmann GF: Glutaric aciduria type III: a distinctive non-disease? J Inherit Metab Dis. 2002 Oct;25(6):483-90.
Pubmed: 12555941
Sherman EA, Strauss KA, Tortorelli S, Bennett MJ, Knerr I, Morton DH, Puffenberger EG: Genetic mapping of glutaric aciduria, type 3, to chromosome 7 and identification of mutations in c7orf10. Am J Hum Genet. 2008 Nov;83(5):604-9. doi: 10.1016/j.ajhg.2008.09.018.
Pubmed: 18926513
Hoffmann GF, Zschocke J: Glutaric aciduria type I: from clinical, biochemical and molecular diversity to successful therapy. J Inherit Metab Dis. 1999 Jun;22(4):381-91.
Pubmed: 10407775
Koeller DM, Woontner M, Crnic LS, Kleinschmidt-DeMasters B, Stephens J, Hunt EL, Goodman SI: Biochemical, pathologic and behavioral analysis of a mouse model of glutaric acidemia type I. Hum Mol Genet. 2002 Feb 15;11(4):347-57.
Pubmed: 11854167
Lysine Degradation References
Lehninger, A.L. Lehninger principles of biochemistry (4th ed.) (2005). New York: W.H Freeman.
Salway, J.G. Metabolism at a glance (3rd ed.) (2004). Alden, Mass.: Blackwell Pub.
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