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.

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.

Last Updated: 14 Jan 2013

View Details

 

General Support Organizations

Not finding the support you need? Show General Support Organizations

 
 
Top

How do you compare to others with this condition?

Privately answer questions about your health. Let resources, you select, come to you.

Anonymously share and see how your answers compare with others with this condition while privately providing key pieces of information to medical researchers, disease advocacy groups, and others ONLY YOU select to help speed up cures and better alternatives.

 
 

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

View Details

 

General Support Organizations

Not finding the support you need? Show General Support Organizations

 
 
 
 
Top

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 12 free, full-text research articles on human participants. First 3 results:

Striatal neuronal death mediated by astrocytes from the Gcdh-/- mouse model of glutaric acidemia type I.
 

Author(s): Silvia Olivera-Bravo, César A J Ribeiro, Eugenia Isasi, Emiliano Trías, Guilhian Leipnitz, Pablo Díaz-Amarilla, Michael Woontner, Cheryl Beck, Stephen I Goodman, Diogo Souza, Moacir Wajner, Luis Barbeito

Journal: Hum. Mol. Genet.. 2015 Aug;24(16):4504-15.

 

Glutaric acidemia type I (GA-I) is an inherited neurometabolic childhood disorder caused by defective activity of glutaryl CoA dehydrogenase (GCDH) which disturb lysine (Lys) and tryptophan catabolism leading to neurotoxic accumulation of glutaric acid (GA) and related metabolites. ...

Last Updated: 24 Jul 2015

Go To URL
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

Go To URL
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

Go To URL

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

Go To URL
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

Go To URL
 
 
Top

Symptoms, Diagnosis, and Treatment

There are currently no related results available in Genetics Home Reference.

There are currently no related results available in GeneReviews.

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

 
 
Top

Clinical Trial Information This information is provided by ClinicalTrials.gov

There are currently no open clinical trials for this condition.