Defective HPRT1 disrupts guanine and hypoxanthine salvage

Stable Identifier
R-HSA-9734281
Type
Pathway
Species
Homo sapiens
Compartment
cytosol
ReviewStatus
5/5
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Defective HPRT1 disrupts guanine and hypoxanthine salvage
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Normally in humans, guanine and hypoxanthine can be salvaged by conversion to GMP and IMP, catalyzed by HPRT1 (hypoxanthine guanine phosphoribosyltransferase). In the absence of HPRT1 activity, however, accumulated guanine and hypoxanthine are catabolized by XDH (xanthine dehydrogenase / oxidase) to urate (Fu & Jinnah 2012).
Literature References
PubMed ID Title Journal Year
22157001 Genotype-phenotype correlations in Lesch-Nyhan disease: moving beyond the gene

Fu, R, Jinnah, HA

J Biol Chem 2012
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as an event of
Disease
Name Identifier Synonyms
Lesch-Nyhan syndrome DOID:1919 Lesch - Nyhan syndrome, X-linked hyperuricemia, hypoxanthine guanine phosphoribosyltransferase deficiency, HG-PRT deficiency, deficiency of IMP pyrophosphorylase, Complete hypoxanthine-guanine phosphoribosyltransferase deficiency, Hypoxanthine-guanine phosphoribosyltransferase deficiency, Hypoxanthine-guanine-phosphoribosyltransferase deficiency
Cross References
BioModels Database
Authored
D'Eustachio, P  (2021-07-02)
Reviewed
Jassal, B  (2021-07-09)
Created
D'Eustachio, P  (2021-06-16)
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