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Pathway Description
Primary Hyperoxaluria Type I
Homo sapiens
Disease Pathway
Created: 2013-08-01
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
[OMIM: Entry 259900](http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=259900)
[Metagene: id_d=184](http://www.metagene.de/program/d.prg?id_d=184)
[Uniprot: P21549](http://www.uniprot.org/uniprot/P21549)
Boquist L, Lindqvist B, Ostberg Y, Steen L: Primary oxalosis. Am J Med. 1973 May;54(5):673-81.
Pubmed: 4701948
Cochat P, Koch Nogueira PC, Mahmoud MA, Jamieson NV, Scheinman JI, Rolland MO: Primary hyperoxaluria in infants: medical, ethical, and economic issues. J Pediatr. 1999 Dec;135(6):746-50.
Pubmed: 10586179
Danpure CJ: Primary hyperoxaluria type 1 and peroxisome-to-mitochondrion mistargeting of alanine:glyoxylate aminotransferase. Biochimie. 1993;75(3-4):309-15.
Pubmed: 8507692
Danpure CJ, Jennings PR: Peroxisomal alanine:glyoxylate aminotransferase deficiency in primary hyperoxaluria type I. FEBS Lett. 1986 May 26;201(1):20-4.
Pubmed: 3709805
Latta K, Brodehl J: Primary hyperoxaluria type I. Eur J Pediatr. 1990 May;149(8):518-22.
Pubmed: 2189732
Milliner DS, Eickholt JT, Bergstralh EJ, Wilson DM, Smith LH: Results of long-term treatment with orthophosphate and pyridoxine in patients with primary hyperoxaluria. N Engl J Med. 1994 Dec 8;331(23):1553-8. doi: 10.1056/NEJM199412083312304.
Pubmed: 7969325
Milliner DS, Harris PC, Cogal AG, Lieske JC: Primary Hyperoxaluria Type 1
Pubmed: 20301460
Alanine Metabolism 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.
MacDonald M, Neufeldt N, Park BN, Berger M, Ruderman N: Alanine metabolism and gluconeogenesis in the rat. Am J Physiol. 1976 Aug;231(2):619-26. doi: 10.1152/ajplegacy.1976.231.2.619.
Pubmed: 961915
Ruderman NB, Schmahl FW, Goodman MN: Regulation of alanine formation and release in rat muscle in vivo: effect of starvation and diabetes. Am J Physiol. 1977 Aug;233(2):E109-14. doi: 10.1152/ajpendo.1977.233.2.E109.
Pubmed: 888947
Garber AJ, Karl IE, Kipnis DM: Alanine and glutamine synthesis and release from skeletal muscle. I. Glycolysis and amino acid release. J Biol Chem. 1976 Feb 10;251(3):826-35.
Pubmed: 1249058
Garber AJ, Karl IE, Kipnis DM: Alanine and glutamine synthesis and release from skeletal muscle. II. The precursor role of amino acids in alanine and glutamine synthesis. J Biol Chem. 1976 Feb 10;251(3):836-43.
Pubmed: 1249059
Shiba K, Ripmaster T, Suzuki N, Nichols R, Plotz P, Noda T, Schimmel P: Human alanyl-tRNA synthetase: conservation in evolution of catalytic core and microhelix recognition. Biochemistry. 1995 Aug 22;34(33):10340-9. doi: 10.1021/bi00033a004.
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Pubmed: 14702039
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Pubmed: 15616553
Sohocki MM, Sullivan LS, Harrison WR, Sodergren EJ, Elder FF, Weinstock G, Tanase S, Daiger SP: Human glutamate pyruvate transaminase (GPT): localization to 8q24.3, cDNA and genomic sequences, and polymorphic sites. Genomics. 1997 Mar 1;40(2):247-52. doi: 10.1006/geno.1996.4604.
Pubmed: 9119391
Ishiguro M, Takio K, Suzuki M, Oyama R, Matsuzawa T, Titani K: Complete amino acid sequence of human liver cytosolic alanine aminotransferase (GPT) determined by a combination of conventional and mass spectral methods. Biochemistry. 1991 Oct 29;30(43):10451-7. doi: 1