2,4 Dihydroxyglutarate, U, Urine

Laboratory assay overview

The primary hyperoxalurias (PH) are a group of inherited disorders caused by defects in glyoxylate metabolism, with a combined incidence of about 1:60,000. To date, three primary hyperoxaluria have been described, designated as PH1, PH2, and PH3. All three forms follow an autosomal recessive mode of inheritance, and lead to increased oxalate levels in the body. The typical presentation is with recurring calcium oxalate renal stones. Calcium oxalate can also deposit in various tissues including the kidneys (nephrocalcinosis). End stage renal disease can occur from damage caused by the systemic oxalosis. The age of onset of symptoms ranges from infancy to adulthood; some adults may remain asymptomatic until the sixth decade.