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Diseases

Genetic and Rare Diseases Information Center (GARD)

D-2-alpha hydroxyglutaric aciduria


Other Names for this Disease
  • D2HA
  • 2-hydroxyglutaric acidemia
  • 2-hydroxyglutaric aciduria
Related Diseases
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Overview

D-2-alpha hydroxyglutaric aciduria is an inherited metabolic condition that is associated with progressive brain damage. Signs and symptoms of this condition include developmental delay, seizures, hypotonia, and abnormalities in the largest part of the brain (the cerebrum), which controls many important functions such as muscle movement, speech, vision, thinking, emotion, and memory. D-2-alpha hydroxyglutaric aciduria is caused by changes (mutations) in the D2HGDH gene and is inherited in an autosomal recessive manner.[1][2] Treatment is focused on alleviating the signs and symptoms of the condition, such as medications to control seizures.[3]
Last updated: 10/28/2015

References

  1. 2-hydroxyglutaric aciduria. Genetics Home Reference. August 2013; http://ghr.nlm.nih.gov/condition/2-hydroxyglutaric-aciduria.
  2. D-2-hydroxyglutaric aciduria-1. OMIM. October 2015; http://www.omim.org/entry/600721.
  3. Struys EA. D-2-Hydroxyglutaric aciduria: unravelling the biochemical pathway and the genetic defect. J Inherit Metab Dis. 2006 Feb;29(1):21-9. February 2006; 29(1):21-29.
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Basic Information

  • Genetics Home Reference (GHR) contains information on D-2-alpha hydroxyglutaric aciduria. This website is maintained by the National Library of Medicine.

In Depth Information

  • 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 D-2-alpha hydroxyglutaric aciduria. Click on the link to view a sample search on this topic.
Other Names for this Disease
  • D2HA
  • 2-hydroxyglutaric acidemia
  • 2-hydroxyglutaric aciduria
Related Diseases
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.