Primary hyperoxaluria service 

A UKAS accredited laboratory
 
The primary hyperoxalurias (PH) are a group of inherited disorders of endogenous oxalate overproduction that lead to increased urine oxalate, nephrocalcinosis and/or recurrent stones, with renal failure in the most severe cases. There are at least three types:

  • PH1 – deficiency of alanine:glyoxylate aminotransferase (AGT) encoded by the AGXT gene on chromosome 2q
  • PH2 – lack of glyoxylate reductase (GR) encoded by the GRHPR gene on chromosome 9
  • PH3 – lack of 4-hydroxy-2-oxoglutarate aldolase encoded by the HOGA1 gene on chromosome 10

The department offers a unique service for the evaluation of primary hyperoxaluria We now offer a PH metabolite test –simultaneous analysis of urine glycolate, glycerate, 2,4-dihydroxyglutarate in patients with known hyperoxaluria to focus genetic testing. In addition, we offer analysis of AGT and GRHPR enzymes in liver biopsy if required for confirmation of PH1 and PH2. Sample details are available on request.

Contact:

Felicity Stokes felicity.stokes@hslpathology.com
Robin Pryke robin.pryke@hslpathology.com

PH1, PH2 and PH3 diagnosis
Primary hyperoxaluria service