APRT (Adenine phosphoribosyltransferase) enzyme assay

Description: 
Adenine phosphoribosyltransferase (APRT) is a purine salvage enzyme catalysing the salvage of adenine to the adenine nucleotide AMP. Adenine is a also a substrate for xanthine oxidase which forms insoluble 2,8-dihydroxyadenine. Failure to salvage adenine leads to high levels of 2,8-dihydroxyadenine, urolithiasis and renal failure. APRT activity is measured in red cell lysates as the formation of AMP from the substrates adenine and phosphoribosylpyrophosphate using an HPLC based method.
Clinical details: 
Adenine phosphoribosyltransferase (APRT) deficiency is an under recognised disorder that results in the accumulation of 2,8-dihydroxyadenine in urine. 2,8-Dihydroxyadenine is highly insoluble and causes kidney stone formation, leading to acute renal failure, acute on chronic renal failure and if left untreated, the need for kidney transplantation.
Related condition or disease: 
Urolithiasis due to APRT deficiency.
Reference range: 

16 - 32

Units: 
nmol/h/mgHb
Department: 
Reference Services
Location: 
Blackfriars Hub
Sample type and Volume required: 
4 mL blood EDTA (purple top)
Turnaround time: 
1 week
Criteria for acceptance / rejections of sample
Storage and transport: 
Store in fridge, ( don’t freeze) to laboratory within 3 days/1st class pos
Contacts:
Purine Research Laboratory at Blackfriars Hub
020 4 591 0058
Reference Chemistry, 1st Floor Blackfriars Hub
41-43 Friars Bridge Court
Blackfriars Road
London
SE1 8NZ
For clinical advice or interpretation of results, please contact the laboratory in the first instance.
Laboratory: 
Purine Research Laboratory at Blackfriars Hub

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Last updated: 30/01/2026