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Pathway Description
Xanthine Dehydrogenase Deficiency (Xanthinuria)
Homo sapiens
Disease Pathway
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
Frayha RA, Salti IS, Arnaout A, Khatchadurian A, Uthman SM: Hereditary xanthinuria: report on three patients and short review of the literature. Nephron. 1977;19(6):328-32. doi: 10.1159/000180910.
Pubmed: 927625
Carpenter TO, Lebowitz RL, Nelson D, Bauer S: Hereditary xanthinuria presenting in infancy with nephrolithiasis. J Pediatr. 1986 Aug;109(2):307-9.
Pubmed: 3755469
Auscher C, Pasquier C, de Gery A, Weissenbach R, Delbarre F: Xanthinuria : study of a large kindred with familial urolithiasis and gout. Biomedicine. 1977 Mar;27(2):57-9.
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
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.
Garcia-Gil M, Camici M, Allegrini S, Pesi R, Petrotto E, Tozzi MG: Emerging Role of Purine Metabolizing Enzymes in Brain Function and Tumors. Int J Mol Sci. 2018 Nov 14;19(11). pii: ijms19113598. doi: 10.3390/ijms19113598.
Pubmed: 30441833
Davies O, Mendes P, Smallbone K, Malys N: Characterisation of multiple substrate-specific (d)ITP/(d)XTPase and modelling of deaminated purine nucleotide metabolism. BMB Rep. 2012 Apr;45(4):259-64.
Pubmed: 22531138
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