Dicarboxylic Aminoaciduria

Common Name(s)

Dicarboxylic Aminoaciduria

Dicarboxylic aminoaciduria is a rare metabolic disorder characterized by the excessive loss of aspartate and glutamate in urine. Symptoms have varied greatly among the few reported cases.  Dicarboxylic aminoaciduria is caused by mutations in the SLC1A1 gene. It is inherited in an autosomal recessive fashion.
 

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Dicarboxylic Aminoaciduria" for support, advocacy or research.

There are currently no organizations listed in Disease InfoSearch that support this condition. Create a listing.

 

 

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

Loss-of-function mutations in the glutamate transporter SLC1A1 cause human dicarboxylic aminoaciduria.
 

Author(s): Charles G Bailey, Renae M Ryan, Annora D Thoeng, Cynthia Ng, Kara King, Jessica M Vanslambrouck, Christiane Auray-Blais, Robert J Vandenberg, Stefan Bröer, John E J Rasko

Journal: J. Clin. Invest.. 2011 Jan;121(1):446-53.

 

Solute carrier family 1, member 1 (SLC1A1; also known as EAAT3 and EAAC1) is the major epithelial transporter of glutamate and aspartate in the kidneys and intestines of rodents. Within the brain, SLC1A1 serves as the predominant neuronal glutamate transporter and buffers the synaptic ...

Last Updated: 31 Dec 1969

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The terms "Dicarboxylic Aminoaciduria" returned 0 free, full-text review articles on human participants.

 
 
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Clinical Trial Information This information is provided by ClinicalTrials.gov

There are currently no open clinical trials for this condition.