Defective APRT disrupts adenine salvage

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).

Summary from Reactome (R-HSA-9734195), read 2026-09-23.