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Pathway Description
Xanthine Dehydrogenase Deficiency (Xanthinuria)
Homo sapiens
Disease Pathway
Created: 2013-08-01
Last Updated: 2022-12-02
The rare genetic disorder, Xanthinuria (also referred to as xanthine oxidase deficiency) results from a deficiency of the enzyme xanthine oxidase. This enzyme deficiency causes the accumulation of: xanthine in the plasma, uric acid in serum or hypoxanthine, uric acid and xanthine in the urine. The disorder has symptoms including arthralgia, hematuria, mental retardation, stomatisis, and urolithiasis.
References
Xanthine Dehydrogenase Deficiency (Xanthinuria) References
[Uniprot: P47989](http://www.uniprot.org/uniprot/P47989)
[OMIM: Entry 278300](http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=278300)
Engelke, U., van der Graaf, M., Heerschap, A., Hoenderop, S., Moolenaar, S., Morava, E., Wevers, R. Handbook of 1H-NMR spectroscopy in inborn errors of metabolism: body fluid NMR spectroscopy and in vivo MR spectroscopy (2nd ed) (2007) p.101 Heilbronn: SPS Verlagsgesellschaft
Cifuentes Delatte L, Castro-Mendoza H: [Familial xanthinuria]. Rev Clin Esp. 1967 Nov 30;107(4):244-56.
Pubmed: 5629078
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Pubmed: 927625
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Pubmed: 3755469
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Pubmed: 861350
XANTHINURIA. Nutr Rev. 1954 Jul;12(7):200-2. doi: 10.1111/j.1753-4887.1954.tb03284.x.
Pubmed: 13176819
Purine 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: 30441833
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Pubmed: 22531138
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Pubmed: 7487923
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Pubmed: 15164053
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Pubmed: 15489334
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Pubmed: 14702039
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Pubmed: 16641997
Chadwick BP, Frischauf AM: The CD39-like gene family: identification of three new human members (CD39L2, CD39L3, and CD39L4), their murine homologues, and a member of the gene family from Drosophila melanogaster. Genomics. 1998 Jun 15;50(3):357-67. doi: 10.1006/geno.1998.5317.
Pubmed: 9676430
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Pubmed: 10708485
Murphy-Piedmonte DM, Crawford PA, Kirley TL: Bacterial expression, folding, purification and characterization of soluble NTPDase5 (CD39L4) ecto-nucleotidase. Biochim Biophys Acta. 2005 Mar 14;1747(2):251-9. doi: 10.1016/j.bbapap.2004.11.017. Epub 2005 Jan 11.
Pubmed: 15698960
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Pubmed: 16752921
Fausther M, Lecka J, Kukulski F, Levesque SA, Pelletier J, Zimmermann H, Dranoff JA, Sevigny J: Cloning, purification, and identification of the liver canalicular ecto-ATPase as NTPDase8. Am J Physiol Gastrointest Liver Physiol. 2007 Mar;292(3):G785-95. doi: 10.1152/ajpgi.00293.2006. Epub 2006 Nov 9.
Pubmed: 17095758
Clark HF, Gurney AL, Abaya E, Baker K, Baldwin D, Brush J, Chen J, Chow B, Chui C, Crowley C, Currell B, Deuel B, Dowd P, Eaton D, Foster J, Grimaldi C, Gu Q, Hass PE, Heldens S, Huang A, Kim HS, Klimowski L, Jin Y, Johnson S, Lee J, Lewis L, Liao D, Mark M, Robbie E, Sanchez C, Schoenfeld J, Seshagiri S, Simmons L, Singh J, Smith V, Stinson J, Vagts A, Vandlen R, Watanabe C, Wieand D, Woods K, Xie MH, Yansura D, Yi S, Yu G, Yuan J, Zhang M, Zhang Z, Goddard A, Wood WI, Godowski P, Gray A: The secreted protein discovery initiative (SPDI), a large-scale effort to identify novel human secreted and transmembrane proteins: a bioinformatics assessment. Genome Res. 2003 Oct;13(10):2265-70. doi: 10.1101/gr.1293003. Epub 2003 Sep 15.
Pubmed: 12975309
Fitzgibbon J, Katsanis N, Wells D, Delhanty J, Vallins W, Hunt DM: Human guanylate kinase (GUK1): cDNA sequence, expression and chromosomal localisation. FEBS Lett. 1996 May 6;385(3):185-8. doi: 10.1016/0014-5793(96)00365-1.
Pubmed: 8647247
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Pubmed: 8663313
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Pubmed: 7999131
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Pubmed: 15815621
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