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Diseases

Genetic and Rare Diseases Information Center (GARD)

2-Hydroxyglutaric aciduria


Other Names for this Disease
  • 2-hydroxyglutaric acidemia
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Overview

2-hydroxyglutaric aciduria is a condition that causes progressive damage to the brain. The major types of this disorder are called D-2-hydroxyglutaric aciduria (D-2-HGA), L-2-hydroxyglutaric aciduria (L-2-HGA), and combined D,L-2-hydroxyglutaric aciduria (D,L-2-HGA). The main features of D-2-HGA vary within the different types but, in  general, may include delayed development, seizures, weak muscle tone (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. The different types and subtypes are caused by different gene mutations and are inherited in an autosomal recessive pattern, except for a D-2HGA subtype, known as type II D-2-HGA, which is inherited in an autosomal dominant pattern.[1]
Last updated: 7/22/2015

References

  1. Hydorxyglutaric aciduria. Genetics Home Reference. August, 2013; http://ghr.nlm.nih.gov/condition/2-hydroxyglutaric-aciduria. Accessed 7/22/2015.
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Basic Information

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

In Depth Information

  • Orphanet is a European reference portal for¬†information on rare diseases and orphan drugs.¬† Access to this database is free of charge.
Other Names for this Disease
  • 2-hydroxyglutaric acidemia
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.