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Pathway Description
Primary Hyperoxaluria Type I
Homo sapiens
Disease Pathway
Created: 2013-08-01
Last Updated: 2022-12-07
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)
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Pubmed: 4701948
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Pubmed: 7969325
Milliner DS, Harris PC, Cogal AG, Lieske JC: Primary Hyperoxaluria Type 1
Pubmed: 20301460
Alanine Metabolism References
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Salway, J.G. Metabolism at a glance (3rd ed.) (2004). Alden, Mass.: Blackwell Pub.
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Pubmed: 961915
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Pubmed: 888947
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