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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)

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Pubmed: 4701948

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Danpure CJ: Primary hyperoxaluria type 1 and peroxisome-to-mitochondrion mistargeting of alanine:glyoxylate aminotransferase. Biochimie. 1993;75(3-4):309-15.

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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

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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

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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

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