Defective APRT disrupts adenine salvage

Stable Identifier
R-HSA-9734195
Type
Pathway
Species
Homo sapiens
Compartment
cytosol
ReviewStatus
5/5
Locations in the PathwayBrowser
Expand all
General
SVG | 
PNG
Low
Medium
High
 | PPTX  | SBGN
Defective APRT disrupts adenine salvage
Click the image above or here to open this pathway in the Pathway Browser
Normally in humans, adenine formed in processes such as polyamine biosynthesis can be salvaged by conversion to AMP, catalyzed by APRT (adenine phosphoribosyltransferase). In the absence of APRT activity, however, accumulated adenine is instead converted to 2,8-dioxo-adenine. Accumulation of insoluble crystals of 2,8-dioxo-adenine in the kidneys causes the kidney damage that is a major symptom of APRT deficiency in humans (Van Acker et al. 1977; Bollée et al. 2012).
Literature References
PubMed ID Title Journal Year
22700886 Adenine phosphoribosyltransferase deficiency

Daudon, M, Bollée, G, Knebelmann, B, Harambat, J, Ceballos-Picot, I, Bensman, A

Clin J Am Soc Nephrol 2012
Participants
Events
Participates
as an event of
Disease
Name Identifier Synonyms
adenine phosphoribosyltransferase deficiency DOID:0060350 APRT deficiency, 2,8-dihydroxyadenine urolithiasis
Authored
D'Eustachio, P  (2021-07-02)
Reviewed
Jassal, B  (2021-07-09)
Created
D'Eustachio, P  (2021-06-15)
Cite Us!