Glutaric Aciduria 1

Common Name(s)

Glutaric Aciduria 1, Glutaric Acidemia I

Glutaric acidemia type I is an inherited disorder in which the body is unable to process certain proteins properly. People with this disorder have inadequate levels of an enzyme that helps break down the amino acids lysine, hydroxylysine, and tryptophan, which are building blocks of protein. Excessive levels of these amino acids and their intermediate breakdown products can accumulate and cause damage to the brain, particularly the basal ganglia, which are regions that help control movement. Intellectual disability may also occur. Glutaric acidemia type I is caused by mutations in the GCDH gene. The condition is inherited in an autosomal recessive manner. Strict dietary control may help limit progression of the neurological damage.
 

Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Glutaric Aciduria 1" 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 Mar 2013

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Glutaric Aciduria 1" 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 Mar 2013

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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 Aciduria 1" returned 10 free, full-text research articles on human participants. First 3 results:

Newborn screening by tandem mass spectrometry for glutaric aciduria type 1: a cost-effectiveness analysis.
 

Author(s): Johannes Pfeil, Stefan Listl, Georg F Hoffmann, Stefan K├Âlker, Martin Lindner, Peter Burgard

Journal:

 

Glutaric aciduria type I (GA-I) is a rare metabolic disorder caused by inherited deficiency of glutaryl-CoA dehydrogenase. Despite high prognostic relevance of early diagnosis and start of metabolic treatment as well as an additional cost saving potential later in life, only a limited ...

Last Updated: 16 Jan 2014

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Glutaric aciduria type 1 in Korea: report of two novel mutations.
 

Author(s): June Dong Park, ByungChan Lim, Ki Joong Kim, Yong Seung Hwang, Seung Ki Kim, Seong-Ho Kang, Sung Im Cho, Sung Sup Park, Joon Soo Lee, Jong Hee Chae

Journal: J. Korean Med. Sci.. 2010 Jun;25(6):957-60.

 

Glutaric aciduria type I (GA I) is an autosomal recessive disorder caused by a deficiency of glutaryl-CoA dehydrogenase. Although over 400 patients confirmed as GA I have been reported, reports from the Asian population had contributed to the minor proportion. We recently diagnosed ...

Last Updated: 1 Jun 2010

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Prenatal cerebral ultrasound and MRI findings in glutaric aciduria Type 1: a de novo case.
 

Author(s): C Mellerio, S Marignier, P Roth, P Gaucherand, V des Portes, J P Pracros, L Guibaud

Journal: Ultrasound Obstet Gynecol. 2008 Jun;31(6):712-4.

 

Last Updated: 3 Jun 2008

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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 Aciduria 1" 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

There are currently no open clinical trials for this condition.