Matthew’s Fight against Primary Hyperoxaluria

  • Primary hyperoxaluria is due exclusively to a genetic defect that causes a loss of specific enzymatic activity. With the absence of enzymatic activity, the alternative pathway that leads to oxalate production as an end-product of glycolate metabolism becomes extremely active, resulting in extremely high oxalate production.
  • Prevention measures to minimize stone formation include maintenance of high fluid intake; pyridoxine supplements for those who are pyridoxine responsive; use of potassium or sodium citrate or neutral orthophosphate.