Aminoaciduria

Common Name(s)

Aminoaciduria, Hyperaminoaciduria

Aminoaciduria is the presence of an abnormal or large amount of amino acids in the urine. Amino acids are the building blocks of proteins. When proteins are broken down or digested, the amino acids are what remain. Aminio acids play many important roles in the human body including being used as a source of enegy and tissue repair. There are usually small amounts of amino acids in normal urine, however increased levels may be a sign of a metabolic disorders, where the body is not processing proteins correctly. These disorders primarily affect the kidneys, liver and brain. Aminoaciduria can be detected by taking a simple urine test. The specific amino acid/s found at abnormal levels in the urine can help determine what the underlying disorder may be. Screening infants for increased levels of amino acids in the urine is important as it can help detect for possible metabolic problems. Early detection in some of these disorders can prevent some future complications.

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "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 "Aminoaciduria" returned 21 free, full-text research articles on human participants. First 3 results:

Imatinib mesylate induces massive and nonspecific aminoaciduria in CML patients.
 

Author(s): Jean-Christophe Ianotto, Adrian Tempescul, Yolande Amet, Pauline Grall, Florence Dalbies, Jean-Richard Eveillard, Gaelle Guillerm, Christian Berthou

Journal: Am. J. Hematol.. 2012 Apr;87(4):437-9.

 

Last Updated: 31 Dec 1969

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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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A case of Marfans syndrome with aminoaciduria.
 

Author(s): N Udayakumar, S Sivapraksh, C Rajendiran

Journal: J Postgrad Med. ;53(3):214-5.

 

Last Updated: 31 Dec 1969

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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 "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

Bucillamine Phase 2 Trial in Patients With Cystinuria
 

Status: Recruiting

Condition Summary: Cystinuria

 

Last Updated: 16 May 2017

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Lipoic Acid Supplement for Cystine Stone
 

Status: Recruiting

Condition Summary: Cystinuria

 

Last Updated: 2 Feb 2018

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TCUPS- Tolvaptan Use in Cyctinuria and Urolithiasis: A Pilot Study
 

Status: Recruiting

Condition Summary: Cystinuria

 

Last Updated: 1 Nov 2017

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