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. 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.
- Related condition
- Reference range
16 – 32
- Units
nmol/h/mgHb
- Testing site
- Synnovis : Reference Services : Blackfriars Hub
- Laboratory
- Inherited Metabolic Disease
- Sample type and volume required
4 mL blood EDTA (purple top)
- Storage and transport
Store in fridge, ( don’t freeze) to laboratory within 3 days/1st class pos
- Turnaround time
1 week
- Contacts
Inherited Metabolic Diseases Unit at Blackfriars Hub
Phone: 020 4591 0070
IMD Duty Biochemist: 07592 502653
Email: ClinicalScientistIMD@synnovis.co.uk
Reference Chemistry
Floor 1, Synnovis hub
Friars Bridge Court
41-43 Blackfriars Road
London
SE1 8NZ