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Primary hyperoxaluria

Patrick Niaudet, MD
Section Editor
Tej K Mattoo, MD, DCH, FRCP
Deputy Editor
Melanie S Kim, MD


Primary hyperoxalurias (PHs) are rare inborn errors of glyoxylate metabolism characterized by the overproduction of oxalate, which is deposited as calcium oxalate in various organs [1-5]. PH is caused by mutations in one of three genes that encode enzymes involved in glyoxylate metabolism. The kidney is the prime target for oxalate deposition, which leads to end-stage renal disease in a significant number of cases.

The clinical manifestations, diagnosis, and treatment of PH types 1 and 2 are reviewed here.


PH is primarily caused by autosomal recessive enzymatic defects in glyoxylate metabolism that result in enhanced oxalate production.

PH type 1 (MIM #259900) is due to the defects in the gene that encodes the hepatic peroxisomal enzyme alanine:glyoxylate aminotransferase (AGT), a pyridoxal 5'-phosphate-dependent enzyme, which is involved in the transamination of glyoxylate to glycine [6]. It accounts for approximately 80 percent of PH cases [7]. (See 'Primary hyperoxaluria type 1' below.)

PH type 2 (MIM #260000) is due to defects in the gene that encodes the cytosolic enzyme glyoxylate reductase/hydroxypyruvate reductase (GRHPR), which is involved in the reduction of glyoxylate to glycolate [8]. It accounts for approximately 10 percent of PH cases [7]. (See 'Primary hyperoxaluria type 2' below.)

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Literature review current through: Nov 2017. | This topic last updated: Apr 28, 2017.
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