Primary hyperoxaluria type 2
Other Names for this Disease
- Oxalosis 2
- Glyoxylate reductase/hydroxypyruvate reductase deficiency
- Glyceric aciduria
- D-glycerate dehydrogenase deficiency
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GRHPR gene. Primary hyperoxaluria type 2 is inherited in an autosomal recessive pattern.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
Last updated: 1/3/2013
- Primary hyperoxaluria. Genetics Home Reference (GHR). January 2008; http://ghr.nlm.nih.gov/condition/primary-hyperoxaluria. Accessed 1/2/2013.
- Genetics Home Reference (GHR) contains information on Primary hyperoxaluria type 2. This website is maintained by the National Library of Medicine.
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- The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
- Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine.
- Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.
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