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Diseases

Genetic and Rare Diseases Information Center (GARD)

L-2-hydroxyglutaric aciduria


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

L-2-hydroxyglutaric aciduria is an inherited metabolic condition that is associated with progressive brain damage. Signs and symptoms of this condition typically begin during infancy or early childhood and may include developmental delay, seizures, speech difficulties, macrocephaly and abnormalities in a part of the brain called the cerebellum, which is involved in coordinating movement (i.e. balance and muscle coordination). L-2-hydroxyglutaric aciduria is caused by changes (mutations) in the L2HGDH 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. L-2-hydroxyglutaric aciduria. OMIM. July 2015; http://www.omim.org/entry/236792.
  3. L-2-hydroxyglutaric aciduria. Orphanet. May 2012; http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79314.
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Basic Information

  • Genetics Home Reference (GHR) contains information on L-2-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 L-2-hydroxyglutaric aciduria. Click on the link to view a sample search on this topic.
Other Names for this Disease
  • L-2-hydroxyglutaric acidemia
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.