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Pathway Description
AICA-Ribosiduria
Homo sapiens
Disease Pathway
Created: 2013-08-01
Last Updated: 2022-12-02
AICA-ribosiduria is a metabolic disease caused by a defect in final steps of purine de novo biosynthesis. This defect is caused by a mutation in the ATIC which codes for bifunctional purine biosynthesis protein PURH. A deficiency in this enzyme results in accumulation of 5-aminoimidazole-4-carboxamide in urine. Symptoms include mental retardation, epilepsy, dysmorphic features, and congenital blindness.
References
AICA-Ribosiduria References
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.22 Heilbronn: SPS Verlagsgesellschaft
[Uniprot: P31939](http://www.uniprot.org/uniprot/P31939)
[OMIM: Entry 608688](http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608688)
Greasley SE, Horton P, Ramcharan J, Beardsley GP, Benkovic SJ, Wilson IA: Crystal structure of a bifunctional transformylase and cyclohydrolase enzyme in purine biosynthesis. Nat Struct Biol. 2001 May;8(5):402-6. doi: 10.1038/87555.
Pubmed: 11323713
Marie S, Heron B, Bitoun P, Timmerman T, Van Den Berghe G, Vincent MF: AICA-ribosiduria: a novel, neurologically devastating inborn error of purine biosynthesis caused by mutation of ATIC. Am J Hum Genet. 2004 Jun;74(6):1276-81. doi: 10.1086/421475. Epub 2004 Apr 26.
Pubmed: 15114530
Purine Metabolism References
Lehninger, A.L. Lehninger principles of biochemistry (4th ed.)Â (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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Pubmed: 7487923
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Pubmed: 15489334
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Pubmed: 10453732
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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
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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
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Pubmed: 8647247
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Pubmed: 8663313
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Pubmed: 7999131
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Pubmed: 15164054
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Pubmed: 15815621
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