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Primary hyperoxaluria type 2
Other Names for this Disease
- D-glycerate dehydrogenase deficiency
- Glyceric aciduria
- Glyoxylate reductase/hydroxypyruvate reductase deficiency
- Oxalosis 2
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Primary hyperoxaluria type 2 is a rare condition characterized by the overproduction of a substance called oxalate (also called oxalic acid). In the kidneys, the excess oxalate combines with calcium to form calcium oxalate, a hard compound that is the main component of kidney stones. Deposits of calcium oxalate can lead to kidney damage, kidney failure, and injury to other organs. Primary hyperoxaluria type 2 is caused by the shortage (deficiency) of an enzyme called glyoxylate reductase/hydroxypyruvate reductase (GRHPR) that normally prevents the buildup of oxalate. This enzyme shortage is caused by mutations in the GRHPR gene. Primary hyperoxaluria type 2 is inherited in an autosomal recessive pattern.
- Primary hyperoxaluria. Genetics Home Reference (GHR). http://ghr.nlm.nih.gov/condition/primary-hyperoxaluria. Accessed January 2, 2013.
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- The The Online Mendelian Inheritance in Man (OMIM) database contains genetics resources that discuss Primary hyperoxaluria type 2. Click on the link to go to OMIM and review these resources.