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Pathway Description
Purine Nucleoside Phosphorylase Deficiency
Homo sapiens
Disease Pathway
Purine nucleoside phosphorylase deficiency (Nucleoside phosphorylase; Immunodeficiency) is a rare disease causing severe immunodeficiency. The disease is caused by a mutation in the enzyme purine nucleoside phosphorylase. The enzyme is necessary for purine breakdown. The mutation causes deoxy-GTP (dGTP) to accumulate which causes T-cell toxicity. The disease results in accumulation of guanosine, inosine, and uric acid in serum; and orotic acid in some cases in the urine. Symptoms include anemia, ataxia, hypotonia, lymphopenia, mental retardation, and tremor or twitching.
References
Purine Nucleoside Phosphorylase Deficiency References
[Uniprot: P00491](http://www.uniprot.org/uniprot/P00491)
[OMIM: Entry 164050](http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164050)
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.85 Heilbronn: SPS Verlagsgesellschaft
Cohen A, Doyle D, Martin DW Jr, Ammann AJ: Abnormal purine metabolism and purine overproduction in a patient deficient in purine nucleoside phosphorylase. N Engl J Med. 1976 Dec 23;295(26):1449-54. doi: 10.1056/NEJM197612232952603.
Pubmed: 825775
Fox IH, Andres CM, Gelfand EW, Biggar D: Purine nucleoside phosphorylase deficiency: altered kinetic properties of a mutant enzyme. Science. 1977 Sep 9;197(4308):1084-6. doi: 10.1126/science.407651.
Pubmed: 407651
Markert ML: Purine nucleoside phosphorylase deficiency. Immunodefic Rev. 1991;3(1):45-81.
Pubmed: 1931007
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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