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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How do you compare to others with this condition?

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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 9 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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Gene structure and mutations of glutaryl-coenzyme A dehydrogenase: impaired association of enzyme subunits that is due to an A421V substitution causes glutaric acidemia type I in the Amish.
 

Author(s): B J Biery, D E Stein, D H Morton, S I Goodman

Journal: Am. J. Hum. Genet.. 1996 Nov;59(5):1006-11.

 

The structure of the human glutaryl coenzyme A dehydrogenase (GCD) gene was determined to contain 11 exons and to span approximately 7 kb. Fibroblast DNA from 64 unrelated glutaric acidemia type I (GA1) patients was screened for mutations by PCR amplification and analysis of SSCP. ...

Last Updated: 11 Dec 1996

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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 2 free, full-text review articles on human participants. First 3 results:

A role of astrocytes in mediating postnatal neurodegeneration in Glutaric acidemia-type 1.
 

Author(s): Silvia Olivera-Bravo, Luis Barbeito

Journal: FEBS Lett.. 2015 Nov;589(22):3492-7.

 

Astrocytes are crucial for postnatal development of neuronal networks, axon myelination and neurovascular structures. Defects in astrocyte generation or maturation are associated with severe neurological developmental disorders. Glutaric acidemia type I (GAI), an inherited neurometabolic ...

Last Updated: 9 Nov 2015

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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.