APRT (Adenine phosphoribosyltransferase) enzyme assay

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.
This test is not currently included in the laboratory's UKAS scope of accreditation to ISO15189:2012.
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.
Reference range: 

16 - 32

Sample type and Volume required: 
4 mL blood EDTA (purple top)
Turnaround time: 
1 week
Storage and transport: 
Store in fridge, ( don’t freeze) to laboratory within 3 days/1st class pos
Purine Research Laboratory at St Thomas'
020 7188 1266
St Thomas’ Hospital
North Wing - 4th Floor
Westminster Bridge Road
London SE1 7EH
For clinical advice or interpretation of results, please contact the laboratory in the first instance.

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Last updated: 20/02/2023