Glutaric Acidemia

Common Name(s)

Glutaric Acidemia

Description for this condition is not yet available.
 

Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Glutaric Acidemia" for support, advocacy or research.

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International Organization of Glutaric Aciduria

The International Organization of Glutaric Aciduria (IOGA) is an international, voluntary, and non-profit organization dedicated to promoting early detection, preventing neurological damage, and assisting in the treatment and rehabilitation of those affected by Glutaric Aciduria Type I (GA1) and other neurological diseases.

Last Updated: 14 Jan 2013

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General Support Organizations

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Glutaric Acidemia" for support, advocacy or research.

Logo
International Organization of Glutaric Aciduria

The International Organization of Glutaric Aciduria (IOGA) is an international, voluntary, and non-profit organization dedicated to promoting early detection, preventing neurological damage, and assisting in the treatment and rehabilitation of those affected by Glutaric Aciduria Type I (GA1) and other neurological diseases.

http://www.glutaricacidemia.org/

Last Updated: 14 Jan 2013

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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 "Glutaric Acidemia" returned 11 free, full-text research articles on human participants. First 3 results:

Maternal glutaric acidemia, type I identified by newborn screening.
 

Author(s): Eric A Crombez, Stephen D Cederbaum, Elaine Spector, Erica Chan, Denise Salazar, Julie Neidich, Stephen Goodman

Journal: Mol. Genet. Metab.. 2008 May;94(1):132-4.

 

We report two women with glutaric acidemia type I in whom the diagnosis was unsuspected until a low carnitine level was found in their newborn children. Both mothers had low carnitine in plasma. In the first, organic acid analysis was only done after fibroblast studies revealed normal ...

Last Updated: 21 Apr 2008

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Mechanism of age-dependent susceptibility and novel treatment strategy in glutaric acidemia type I.
 

Author(s): William J Zinnanti, Jelena Lazovic, Cathy Housman, Kathryn LaNoue, James P O'Callaghan, Ian Simpson, Michael Woontner, Stephen I Goodman, James R Connor, Russell E Jacobs, Keith C Cheng

Journal: J. Clin. Invest.. 2007 Nov;117(11):3258-70.

 

Glutaric acidemia type I (GA-I) is an inherited disorder of lysine and tryptophan metabolism presenting with striatal lesions anatomically and symptomatically similar to Huntington disease. Affected children commonly suffer acute brain injury in the context of a catabolic state associated ...

Last Updated: 2 Nov 2007

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Neuropathological, biochemical and molecular findings in a glutaric acidemia type 1 cohort.
 

Author(s): Christopher B R Funk, Asuri N Prasad, Patrick Frosk, Sven Sauer, Stefan K├Âlker, Cheryl R Greenberg, Marc R Del Bigio

Journal: Brain. 2005 Apr;128(Pt 4):711-22.

 

Glutaric acidemia type 1 (GA-1) is an autosomal recessive disorder characterized by a deficiency of glutaryl-CoA dehydrogenase (GCDH) activity. GA-1 is often associated with an acute encephalopathy between 6 and 18 months of age that causes striatal damage resulting in a severe dystonic ...

Last Updated: 24 Mar 2005

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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 "Glutaric Acidemia" returned 1 free, full-text review articles on human participants. First 3 results:

Glutaric acidemia type 1.
 

Author(s): Gary L Hedlund, Nicola Longo, Marzia Pasquali

Journal: Am J Med Genet C Semin Med Genet. 2006 May;142C(2):86-94.

 

Glutaric acidemias comprise different disorders resulting in an increased urinary excretion of glutaric acid. Glutaric acidemia type 1 (GA-1) is an autosomal recessive disorder of lysine, hydroxylysine, and tryptophan metabolism caused by deficiency of glutaryl-CoA dehydrogenase. ...

Last Updated: 24 Apr 2006

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Symptoms, Diagnosis, and Treatment

There are currently no related results available in GeneReviews.

There are currently no related results available in Genetic Testing Registry.

 
 
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Clinical Trial Information This information is provided by ClinicalTrials.gov

There are currently no open clinical trials for this condition.