L-2-hydroxyglutaric aciduria

Common Name(s)

L-2-hydroxyglutaric aciduria

Description for this condition is not yet available.
 

Advocacy and Support Organizations

 

Condition Specific Organizations

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

Organic Acidemia Association

The Organic Acidemia Association is a volunteer non-profit organization whose mission is to empower families and health care professionals with knowledge in organic acidemia metabolic disorders. We support early intervention through expanded newborn screening, solicit contributions and distribute funding that supports research toward improved treatment and eventual cures in the areas of Organic Acid disorders.

Last Updated: 18 Jun 2015

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General Support Organizations

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Advocacy and Support Organizations

 

Condition Specific Organizations

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

Organic Acidemia Association

The Organic Acidemia Association is a volunteer non-profit organization whose mission is to empower families and health care professionals with knowledge in organic acidemia metabolic disorders. We support early intervention through expanded newborn screening, solicit contributions and distribute funding that supports research toward improved treatment and eventual cures in the areas of Organic Acid disorders.

www.oaanews.org

Last Updated: 18 Jun 2015

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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 "L-2-hydroxyglutaric aciduria" returned 9 free, full-text research articles on human participants. First 3 results:

L-2 hydroxyglutaric aciduria presenting with status epilepticus.
 

Author(s): Sedat Işikay

Journal:

 

L-2 Hydroxyglutaric aciduria is a rare, progressive, autosomal recessively inherited metabolic disorder of organic acid metabolism. It is characterised by macrocephaly, progressive neurological syndrome with cerebellar features, mental deterioration, typical brain MRI findings and ...

Last Updated: 10 Jun 2013

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L-2 hydroxyglutaric aciduria presenting with anxiety symptoms.
 

Author(s): Cem Gökçen, Sedat Isikay, Kutluhan Yilmaz

Journal:

 

l-2 Hydroxyglutaric aciduria is a rare autosomal recessively inherited metabolic disorder of organic acid metabolism. Cerebellar and pyramidal signs with progressive neurological syndromes, mental deterioration, tremors, seizures, epilepsy and rarely macrocephaly are clinical findings ...

Last Updated: 10 Jun 2013

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Deficiency in SLC25A1, encoding the mitochondrial citrate carrier, causes combined D-2- and L-2-hydroxyglutaric aciduria.
 

Author(s): Benjamin Nota, Eduard A Struys, Ana Pop, Erwin E Jansen, Matilde R Fernandez Ojeda, Warsha A Kanhai, Martijn Kranendijk, Silvy J M van Dooren, Marianna R Bevova, Erik A Sistermans, Aggie W M Nieuwint, Magalie Barth, Tawfeg Ben-Omran, Georg F Hoffmann, Pascale de Lonlay, Marie T McDonald, Alf Meberg, Ania C Muntau, Jean-Marc Nuoffer, Rossella Parini, Marie-Hélène Read, Axel Renneberg, René Santer, Thomas Strahleck, Emile van Schaftingen, Marjo S van der Knaap, Cornelis Jakobs, Gajja S Salomons

Journal: Am. J. Hum. Genet.. 2013 Apr;92(4):627-31.

 

The Krebs cycle is of fundamental importance for the generation of the energetic and molecular needs of both prokaryotic and eukaryotic cells. Both enantiomers of metabolite 2-hydroxyglutarate are directly linked to this pivotal biochemical pathway and are found elevated not only ...

Last Updated: 8 Apr 2013

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Reviews from the PubMed Database

Review articles summarize what is currently known about a disease. They discuss research previously published by others.
The terms "L-2-hydroxyglutaric aciduria" returned 1 free, full-text review articles on human participants. First 3 results:

Cerebral neoplasms in L-2 hydroxyglutaric aciduria: 3 new cases and meta-analysis of literature data.
 

Author(s): Z Patay, J C Mills, U Löbel, A Lambert, A Sablauer, D W Ellison

Journal: AJNR Am J Neuroradiol. 2012 May;33(5):940-3.

 

Increasing evidence suggests that patients with L2-HGA have a predisposition to cerebral neoplasms. This may be related to the pathologic accumulation of L2-HG because high amounts of 2-HG have been found in brain neoplasms that have IDH1 mutations. Our experience, on the basis of ...

Last Updated: 16 May 2012

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Symptoms, Diagnosis, and Treatment

There are currently no related results available in GeneReviews.

 
 
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Clinical Trial Information This information is provided by ClinicalTrials.gov

There are currently no open clinical trials for this condition.