Primary hyperoxaluria type 2
Other Names for this Disease
- D-glycerate dehydrogenase deficiency
- Glyceric aciduria
- Glyoxylate reductase/hydroxypyruvate reductase deficiency
- L-glyceric aciduria
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Researchers have identified more than a dozen GRHPR mutations that cause this condition. These mutations either introduce signals that disrupt production of the glyoxylate reductase/hydroxypyruvate reductase enzyme or alter its structure. As a result, enzyme activity is absent or dramatically reduced. Glyoxylate builds up because of the enzyme shortage, and is converted to a compound called oxalate instead of glycolate. Oxalate, in turn, combines with calcium to form calcium oxalate, which the body cannot readily eliminate. Deposits of calcium oxalate can lead to the characteristic features of primary hyperoxaluria type 2.
Last updated: 1/3/2013