Loading Pathway...
Error: Pathway image not found.
Hide
Pathway Description
Primary Hyperoxaluria Type I
Rattus norvegicus
Category:
Metabolite Pathway
Sub-Category:
Disease
Created: 2018-09-10
Last Updated: 2019-08-16
Type I primary hyperoxaluria (Glycolicaciduria) is caused by mutation in the gene encoding alanine-glyoxylate aminotransferase (AGXT). AGXT normally catalyzes the reaction from L-serine and pyruvate to 3-hydroxypyruvate and L-alanine and the reaction from L-alanine and glyoxylate to pyruvate and glycine. A defect in AGXT results in accumulation of glycolic acid, glyoxylic acid, and oxalate in urine. Symptoms include hematuria, myocarditis, nephrocalcinosis, peripheral neuropathy, and renal failure.
References
Primary Hyperoxaluria Type I References
Milliner DS, Harris PC, Cogal AG, Lieske JC: Primary Hyperoxaluria Type 1
Pubmed: 20301460
Alanine Metabolism References
Dignam JD, Dignam SS, Brumley LL: Alanyl-tRNA synthetase from Escherichia coli, Bombyx mori and Ratus ratus. Existence of common structural features. Eur J Biochem. 1991 May 23;198(1):201-10. doi: 10.1111/j.1432-1033.1991.tb16002.x.
Pubmed: 2040280
Gerhard DS, Wagner L, Feingold EA, Shenmen CM, Grouse LH, Schuler G, Klein SL, Old S, Rasooly R, Good P, Guyer M, Peck AM, Derge JG, Lipman D, Collins FS, Jang W, Sherry S, Feolo M, Misquitta L, Lee E, Rotmistrovsky K, Greenhut SF, Schaefer CF, Buetow K, Bonner TI, Haussler D, Kent J, Kiekhaus M, Furey T, Brent M, Prange C, Schreiber K, Shapiro N, Bhat NK, Hopkins RF, Hsie F, Driscoll T, Soares MB, Casavant TL, Scheetz TE, Brown-stein MJ, Usdin TB, Toshiyuki S, Carninci P, Piao Y, Dudekula DB, Ko MS, Kawakami K, Suzuki Y, Sugano S, Gruber CE, Smith MR, Simmons B, Moore T, Waterman R, Johnson SL, Ruan Y, Wei CL, Mathavan S, Gunaratne PH, Wu J, Garcia AM, Hulyk SW, Fuh E, Yuan Y, Sneed A, Kowis C, Hodgson A, Muzny DM, McPherson J, Gibbs RA, Fahey J, Helton E, Ketteman M, Madan A, Rodrigues S, Sanchez A, Whiting M, Madari A, Young AC, Wetherby KD, Granite SJ, Kwong PN, Brinkley CP, Pearson RL, Bouffard GG, Blakesly RW, Green ED, Dickson MC, Rodriguez AC, Grimwood J, Schmutz J, Myers RM, Butterfield YS, Griffith M, Griffith OL, Krzywinski MI, Liao N, Morin R, Palmquist D, Petrescu AS, Skalska U, Smailus DE, Stott JM, Schnerch A, Schein JE, Jones SJ, Holt RA, Baross A, Marra MA, Clifton S, Makowski KA, Bosak S, Malek J: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). Genome Res. 2004 Oct;14(10B):2121-7. doi: 10.1101/gr.2596504.
Pubmed: 15489334
Ishiguro M, Suzuki M, Takio K, Matsuzawa T, Titani K: Complete amino acid sequence of rat liver cytosolic alanine aminotransferase. Biochemistry. 1991 Jun 18;30(24):6048-53. doi: 10.1021/bi00238a031.
Pubmed: 2043642
Lehn DA, Moran SM, MacDonald MJ: The sequence of the rat pyruvate carboxylase-encoding cDNA. Gene. 1995 Nov 20;165(2):331-2. doi: 10.1016/0378-1119(95)00557-m.
Pubmed: 8522203
Jitrapakdee S, Booker GW, Cassady AI, Wallace JC: Cloning, sequencing and expression of rat liver pyruvate carboxylase. Biochem J. 1996 Jun 1;316 ( Pt 2):631-7. doi: 10.1042/bj3160631.
Pubmed: 8687410
Oda T, Miyajima H, Suzuki Y, Ichiyama A: Nucleotide sequence of the cDNA encoding the precursor for mitochondrial serine:pyruvate aminotransferase of rat liver. Eur J Biochem. 1987 Nov 2;168(3):537-42. doi: 10.1111/j.1432-1033.1987.tb13451.x.
Pubmed: 2822418
Oda T, Nishiyama K, Ichiyama A: Characterization and sequence analysis of rat serine:pyruvate/alanine:glyoxylate aminotransferase gene. Genomics. 1993 Jul;17(1):59-65. doi: 10.1006/geno.1993.1283.
Pubmed: 8406472
Oda T, Funai T, Ichiyama A: Generation from a single gene of two mRNAs that encode the mitochondrial and peroxisomal serine:pyruvate aminotransferase of rat liver. J Biol Chem. 1990 May 5;265(13):7513-9.
Pubmed: 2332438
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 SMP0000352
Highlighted elements will appear in red.
Highlight Compounds
Highlight Proteins
Enter relative concentration values (without units). Elements will be highlighted in a color gradient where red = lowest concentration and green = highest concentration. For the best results, view the pathway in Black and White.
Visualize Compound Data
Visualize Protein Data
Downloads
Settings