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Pathway Description
Glutaric Aciduria Type I
Rattus norvegicus
Category:
Metabolite Pathway
Sub-Category:
Disease
Created: 2018-09-10
Last Updated: 2019-08-30
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
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Pubmed: 3658174
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
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Pubmed: 15057822
Lee P, Kuhl W, Gelbart T, Kamimura T, West C, Beutler E: Homology between a human protein and a protein of the green garden pea. Genomics. 1994 May 15;21(2):371-8. doi: 10.1006/geno.1994.1279.
Pubmed: 8088832
Skvorak AB, Robertson NG, Yin Y, Weremowicz S, Her H, Bieber FR, Beisel KW, Lynch ED, Beier DR, Morton CC: An ancient conserved gene expressed in the human inner ear: identification, expression analysis, and chromosomal mapping of human and mouse antiquitin (ATQ1). Genomics. 1997 Dec 1;46(2):191-9. doi: 10.1006/geno.1997.5026.
Pubmed: 9417906
Buchli R, Alberati-Giani D, Malherbe P, Kohler C, Broger C, Cesura AM: Cloning and functional expression of a soluble form of kynurenine/alpha-aminoadipate aminotransferase from rat kidney. J Biol Chem. 1995 Dec 8;270(49):29330-5. doi: 10.1074/jbc.270.49.29330.
Pubmed: 7493966
Lundby A, Secher A, Lage K, Nordsborg NB, Dmytriyev A, Lundby C, Olsen JV: Quantitative maps of protein phosphorylation sites across 14 different rat organs and tissues. Nat Commun. 2012 Jun 6;3:876. doi: 10.1038/ncomms1871.
Pubmed: 22673903
Minami-Ishii N, Taketani S, Osumi T, Hashimoto T: Molecular cloning and sequence analysis of the cDNA for rat mitochondrial enoyl-CoA hydratase. Structural and evolutionary relationships linked to the bifunctional enzyme of the peroxisomal beta-oxidation system. Eur J Biochem. 1989 Oct 20;185(1):73-8. doi: 10.1111/j.1432-1033.1989.tb15083.x.
Pubmed: 2806264
Muller-Newen G, Janssen U, Stoffel W: Enoyl-CoA hydratase and isomerase form a superfamily with a common active-site glutamate residue. Eur J Biochem. 1995 Feb 15;228(1):68-73. doi: 10.1111/j.1432-1033.1995.tb20230.x.
Pubmed: 7883013
He XY, Zhang G, Blecha F, Yang SY: Identity of heart and liver L-3-hydroxyacyl coenzyme A dehydrogenase. Biochim Biophys Acta. 1999 Feb 25;1437(2):119-23. doi: 10.1016/s1388-1981(98)00005-5.
Pubmed: 10064895
Fukao T, Kamijo K, Osumi T, Fujiki Y, Yamaguchi S, Orii T, Hashimoto T: Molecular cloning and nucleotide sequence of cDNA encoding the entire precursor of rat mitochondrial acetoacetyl-CoA thiolase. J Biochem. 1989 Aug;106(2):197-204. doi: 10.1093/oxfordjournals.jbchem.a122832.
Pubmed: 2478525
Matsubara Y, Indo Y, Naito E, Ozasa H, Glassberg R, Vockley J, Ikeda Y, Kraus J, Tanaka K: Molecular cloning and nucleotide sequence of cDNAs encoding the precursors of rat long chain acyl-coenzyme A, short chain acyl-coenzyme A, and isovaleryl-coenzyme A dehydrogenases. Sequence homology of four enzymes of the acyl-CoA dehydrogenase family. J Biol Chem. 1989 Sep 25;264(27):16321-31.
Pubmed: 2777793
Ikeda Y, Okamura-Ikeda K, Tanaka K: Purification and characterization of short-chain, medium-chain, and long-chain acyl-CoA dehydrogenases from rat liver mitochondria. Isolation of the holo- and apoenzymes and conversion of the apoenzyme to the holoenzyme. J Biol Chem. 1985 Jan 25;260(2):1311-25.
Pubmed: 3968063
Battaile KP, Molin-Case J, Paschke R, Wang M, Bennett D, Vockley J, Kim JJ: Crystal structure of rat short chain acyl-CoA dehydrogenase complexed with acetoacetyl-CoA: comparison with other acyl-CoA dehydrogenases. J Biol Chem. 2002 Apr 5;277(14):12200-7. doi: 10.1074/jbc.M111296200. Epub 2002 Jan 25.
Pubmed: 11812788
Nakano K, Matuda S, Yamanaka T, Tsubouchi H, Nakagawa S, Titani K, Ohta S, Miyata T: Purification and molecular cloning of succinyltransferase of the rat alpha-ketoglutarate dehydrogenase complex. Absence of a sequence motif of the putative E3 and/or E1 binding site. J Biol Chem. 1991 Oct 5;266(28):19013-7.
Pubmed: 1918017
Indiveri C, Tonazzi A, Stipani I, Palmieri F: The purified and reconstituted ornithine/citrulline carrier from rat liver mitochondria: electrical nature and coupling of the exchange reaction with H+ translocation. Biochem J. 1997 Oct 15;327 ( Pt 2):349-55. doi: 10.1042/bj3270349.
Pubmed: 9359400
This pathway was propagated using PathWhiz -
Pon, A. et al. Pathways with PathWhiz (2015) Nucleic Acids Res. 43(Web Server issue): W552–W559.
Propagated from SMP0000186
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