D-2-hydroxyglutaric aciduria 2

Common Name(s)

D-2-hydroxyglutaric aciduria 2

Description for this condition is not yet available.
 

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "D-2-hydroxyglutaric aciduria 2" for support, advocacy or research.

There are currently no organizations listed in Disease InfoSearch that support this condition. Create a listing.

 

 

General Support Organizations

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Scientific Literature

Articles from the PubMed Database

Research articles describe the outcome of a single study. They are the published results of original research.
The terms "D-2-hydroxyglutaric aciduria 2" returned 4 free, full-text research articles on human participants. First 3 results:

A lymphoblast model for IDH2 gain-of-function activity in d-2-hydroxyglutaric aciduria type II: novel avenues for biochemical and therapeutic studies.
 

Author(s): M Kranendijk, G S Salomons, K M Gibson, E Van Schaftingen, C Jakobs, E A Struys

Journal: Biochim. Biophys. Acta. 2011 Nov;1812(11):1380-4.

 

The recent discovery of heterozygous isocitrate dehydrogenase 2 (IDH2) mutations of residue Arg(140) to Gln(140) or Gly(140) (IDH2(wt/R140Q), IDH2(wt/R140G)) in d-2-hydroxyglutaric aciduria (D-2-HGA) has defined the primary genetic lesion in 50% of D-2-HGA patients, denoted type II. ...

Last Updated: 3 Oct 2011

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IDH2 mutations in patients with D-2-hydroxyglutaric aciduria.
 

Author(s): Martijn Kranendijk, Eduard A Struys, Emile van Schaftingen, K Michael Gibson, Warsha A Kanhai, Marjo S van der Knaap, Jeanne Amiel, Neil R Buist, Anibh M Das, Johannis B de Klerk, Annette S Feigenbaum, Dorothy K Grange, Floris C Hofstede, Elisabeth Holme, Edwin P Kirk, Stanley H Korman, Eva Morava, Andrew Morris, Jan Smeitink, Rám N Sukhai, Hilary Vallance, Cornelis Jakobs, Gajja S Salomons

Journal: Science. 2010 Oct;330(6002):336.

 

Heterozygous somatic mutations in the genes encoding isocitrate dehydrogenase-1 and -2 (IDH1 and IDH2) were recently discovered in human neoplastic disorders. These mutations disable the enzymes' normal ability to convert isocitrate to 2-ketoglutarate (2-KG) and confer on the enzymes ...

Last Updated: 15 Oct 2010

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Mutations in the D-2-hydroxyglutarate dehydrogenase gene cause D-2-hydroxyglutaric aciduria.
 

Author(s): Eduard A Struys, Gajja S Salomons, Younes Achouri, Emile Van Schaftingen, Salvatore Grosso, William J Craigen, Nanda M Verhoeven, Cornelis Jakobs

Journal: Am. J. Hum. Genet.. 2005 Feb;76(2):358-60.

 

d-2-hydroxyglutaric aciduria is a neurometabolic disorder with both a mild and a severe phenotype and with unknown etiology. Recently, a novel enzyme, d-2-hydroxyglutarate dehydrogenase, which converts d-2-hydroxyglutarate into 2-ketoglutarate, and its gene were identified. In the ...

Last Updated: 6 Jan 2005

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Reviews from the PubMed Database

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The terms "D-2-hydroxyglutaric aciduria 2" returned 0 free, full-text review articles on human participants.

 
 
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Symptoms, Diagnosis, and Treatment

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Clinical Trial Information This information is provided by ClinicalTrials.gov

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