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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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Treatment

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How might 2-hydroxyglutaric aciduria be treated?

There is still no established treatment. However, for the D,L-2HGA type (combined type) some researches had used either malate or citrate. During malate treatment, urinary malate concentration increased, but beyond that, no effects were observed. In contrast, treatment with citrate led to some good results, but more studies are needed to confirm the effectiveness of this treatment.[1]
Last updated: 7/22/2015

References
  1. Mühlhausen C, Salomons GS, Lukacs Z, Struys EA, van der Knaap MS, Ullrich K & Santer R. Combined D2-/L2-hydroxyglutaric aciduria (SLC25A1 deficiency): clinical course and effects of citrate treatment. J Inherit Metab Dis. September, 2014; 37(5):775-81. http://www.ncbi.nlm.nih.gov/pubmed/24687295. Accessed 7/22/2015.


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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.