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Genetic and Rare Diseases Information Center (GARD)

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Primary hyperoxaluria type 2


Other Names for this Disease
  • D-glycerate dehydrogenase deficiency
  • Glyceric aciduria
  • Glyoxylate reductase/hydroxypyruvate reductase deficiency
  • HP2
  • L-glyceric aciduria
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Overview

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.[1]
Last updated: 1/3/2013

References

  1. Primary hyperoxaluria. Genetics Home Reference (GHR). January 2008; http://ghr.nlm.nih.gov/condition/primary-hyperoxaluria. Accessed 1/2/2013.
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Basic Information

  • Genetics Home Reference (GHR) contains information on Primary hyperoxaluria type 2. This website is maintained by the National Library of Medicine.

In Depth Information

  • Medscape Reference provides information on this topic. You may need to register to view the medical textbook, but registration is free.
  • 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.
  • PubMed is a searchable database of medical literature and lists journal articles that discuss Primary hyperoxaluria type 2. Click on the link to view a sample search on this topic.
Other Names for this Disease
  • D-glycerate dehydrogenase deficiency
  • Glyceric aciduria
  • Glyoxylate reductase/hydroxypyruvate reductase deficiency
  • HP2
  • L-glyceric aciduria
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.