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Pathway Description
Adenosine Deaminase Deficiency
Homo sapiens
Disease Pathway
Adenosine deaminiase deficiency (immunodeficiency) is an autosomal recessive disease caused by a muation in the ADA gene which codes for adenosine deaminase. A deficiency in this enzyme results in immunodeficiency and a decreased concentration of lymphocytes in blood. Symptoms include diarrhea, severe or recurrent infections, vomiting and early onset in children, infants and newborns. Treatment includes bone-marrow transplants and enzyme replacement therapy.
References
Adenosine Deaminase Deficiency References
[Uniprot: P00813](http://www.uniprot.org/uniprot/P00813)
[OMIM: Entry 102700](http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=102700)
[Wikipedia: Adenosine deaminase deficiency](http://en.wikipedia.org/wiki/Adenosine_deaminase_deficiency)
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.21 Heilbronn: SPS Verlagsgesellschaft
Shovlin CL, Hughes JM, Simmonds HA, Fairbanks L, Deacock S, Lechler R, Roberts I, Webster AD: Adult presentation of adenosine deaminase deficiency. Lancet. 1993 Jun 5;341(8858):1471.
Pubmed: 8099155
Rogers MH, Lwin R, Fairbanks L, Gerritsen B, Gaspar HB: Cognitive and behavioral abnormalities in adenosine deaminase deficient severe combined immunodeficiency. J Pediatr. 2001 Jul;139(1):44-50. doi: 10.1067/mpd.2001.115023.
Pubmed: 11445793
Ratech H, Greco MA, Gallo G, Rimoin DL, Kamino H, Hirschhorn R: Pathologic findings in adenosine deaminase-deficient severe combined immunodeficiency. I. Kidney, adrenal, and chondro-osseous tissue alterations. Am J Pathol. 1985 Jul;120(1):157-69.
Pubmed: 4014441
Flinn AM, Gennery AR: Adenosine deaminase deficiency: a review. Orphanet J Rare Dis. 2018 Apr 24;13(1):65. doi: 10.1186/s13023-018-0807-5.
Pubmed: 29690908
Dhanju R, Min W, Ackerley C, Cimpean L, Palaniyar N, Roifman CM, Grunebaum E: Pulmonary alveolar proteinosis in adenosine deaminase-deficient mice. J Allergy Clin Immunol. 2014 May;133(5):1467-71, 1471.e1-4. doi: 10.1016/j.jaci.2013.11.029. Epub 2014 Jan 15.
Pubmed: 24439080
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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