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Pathway Description
Primary Hyperoxaluria Type I
Homo sapiens
Disease Pathway
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
Boquist L, Lindqvist B, Ostberg Y, Steen L: Primary oxalosis. Am J Med. 1973 May;54(5):673-81. doi: 10.1016/0002-9343(73)90126-5.
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. doi: 10.1016/s0022-3476(99)70095-8.
Pubmed: 10586179
Danpure CJ: Primary hyperoxaluria type 1 and peroxisome-to-mitochondrion mistargeting of alanine:glyoxylate aminotransferase. Biochimie. 1993;75(3-4):309-15. doi: 10.1016/0300-9084(93)90091-6.
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. doi: 10.1016/0014-5793(86)80563-4.
Pubmed: 3709805
Latta K, Brodehl J: Primary hyperoxaluria type I. Eur J Pediatr. 1990 May;149(8):518-22. doi: 10.1007/BF01957682.
Pubmed: 2189732
Milliner DS, Harris PC, Sas DJ, Cogal AG, Lieske JC: Primary Hyperoxaluria Type 1.
Pubmed: 20301460
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. II. The precursor role of amino acids in alanine and glutamine synthesis. J Biol Chem. 1976 Feb 10;251(3):836-43.
Pubmed: 1249059
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