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: 12 Jul 2016

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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: 12 Jul 2016

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

Glutaric aciduria type 1 as a cause of dystonic cerebral palsy.
 

Author(s): Sarar Mohamed, Muddathir H Hamad, Hamdy H Hassan, Mustafa A Salih

Journal: Saudi Med J. 2015 Nov;36(11):1354-7.

 

Glutaric aciduria type 1 (GA1) is an inherited inborn error of metabolism caused by a deficiency of the enzyme glutaryl Co-A dehydrogenase (GCDH). Here, we report a 14-month-old Saudi boy with GA1 who presented with severe dystonia and was mis-diagnosed as cerebral palsy (CP). He ...

Last Updated: 23 Nov 2015

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Glutaric aciduria type 1--importance of early diagnosis and treatment.
 

Author(s): Bushra Afroze, Zabedah Mohammad Yunus

Journal: J Pak Med Assoc. 2014 May;64(5):593-5.

 

Glutaric aciduria type 1 is a rare inherited organic academia. Untreated patients characteristically develop dystonia secondary to striatal injury during early childhood, which results in high morbidity and mortality. In patients diagnosed during neonatal period, striatal injury can ...

Last Updated: 29 Sep 2014

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Anesthetic management of comprehensive dental restoration in a child with glutaric aciduria type 1 using volatile sevoflurane.
 

Author(s): Wei-Nung Teng, Su-Man Lin, Dau-Ming Niu, Yi-Min Kuo, Kwok-Hon Chan, Chun-Sung Sung

Journal: J Chin Med Assoc. 2014 Oct;77(10):548-51.

 

Glutaric aciduria type 1 (GA1) is a rare, inherited mitochondrial disorder that results from deficiency of mitochondrial glutaryl-CoA dehydrogenase. Most patients develop neurological dysfunction early in life, which leads to severe disabilities. We present a 37-month-old girl with ...

Last Updated: 10 Oct 2014

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

[Complex heterogeneity phenotypes and genotypes of glutaric aciduria type 1].
 

Author(s): Qiao Wang, Yan-Ling Yang

Journal: Zhongguo Dang Dai Er Ke Za Zhi. 2016 May;18(5):460-5.

 

Glutaric aciduria type 1 is a rare autosomal recessive disorder. GCDH gene mutations cause glutaryl-CoA dehydrogenase deficiency and accumulation of glutaric acid and 3-hydroxyglutaric acid, resulting in damage of striatum and other brain nucleus and neurodegeneration. Patients with ...

Last Updated: 11 May 2016

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Subdural hematomas: glutaric aciduria type 1 or abusive head trauma? A systematic review.
 

Author(s): Marloes E M Vester, Rob A C Bilo, Wouter A Karst, Joost G Daams, Wilma L J M Duijst, Rick R van Rijn

Journal: Forensic Sci Med Pathol. 2015 Sep;11(3):405-15.

 

Glutaric aciduria type 1 (GA1) is a rare metabolic disorder of glutaryl-CoA-dehydrogenase enzyme deficiency. Children with GA1 are reported to be predisposed to subdural hematoma (SDH) development due to stretching of cortical veins secondary to cerebral atrophy and expansion of CSF ...

Last Updated: 8 Aug 2015

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Symptoms, Diagnosis, and Treatment

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

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Clinical Trial Information This information is provided by ClinicalTrials.gov

There are currently no open clinical trials for this condition.