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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]. The kidney is the prime target for oxalate deposition, which leads to end-stage renal disease in a significant number of cases.

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 about 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 about 10 percent of PH cases [7]. (See 'Primary hyperoxaluria type 2' below.)

PH type 3 (MIM #613616) is due to mutations in the HOGA1 gene that encodes the liver-specific mitochondrial 4-hydroxy-2-oxoglutarate aldolase enzyme, which is involved in the metabolism of hydroxyproline. It appears PH type 3 accounts for about one-half of the remaining 10 percent of patients who do not have either type 1 or 2 disease [7,9,10]. (See 'Primary hyperoxaluria type 3' below.)


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Literature review current through: Sep 2016. | This topic last updated: Sep 15, 2015.
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