Adenine Phosphoribosyltransferase Deficiency
Common Name(s)
Adenine Phosphoribosyltransferase Deficiency
Advocacy and Support Organizations
Condition Specific Organizations
Following organizations serve the condition "Adenine Phosphoribosyltransferase Deficiency" for support, advocacy or research.
How do you compare to others with this condition?
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Advocacy and Support Organizations
Condition Specific Organizations
Following organizations serve the condition "Adenine Phosphoribosyltransferase Deficiency" for support, advocacy or research.
Recommended Apps
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.
Finding the right clinical trial for Adenine Phosphoribosyltransferase Deficiency can be challenging. However, with TrialsFinder (which uses the Reg4ALL database and privacy controls by Private Access), you can permit researchers to let you know opportunities to consider - all without revealing your identity.
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 "Adenine Phosphoribosyltransferase Deficiency" returned 15 free, full-text research articles on human participants.
First 3 results:
Journal: Hinyokika Kiyo. 2011 Jan;57(1):15-9.
Adenine phosphoribosyltransferase (APRT) deficiency is an enzyme deficiency associated with purine metabolism, a hereditary disease that causes recurrent 2, 8-DHA stone formation due to a complete or partial APRT defect and slowly damages the renal function. Since APRT deficiency ...
Journal: J. Am. Soc. Nephrol.. 2010 Apr;21(4):679-88.
Adenine phosphoribosyltransferase (APRT) deficiency is a rare autosomal recessive disorder causing 2,8-dihydroxyadenine stones and renal failure secondary to intratubular crystalline precipitation. Little is known regarding the clinical presentation of APRT deficiency, especially ...
Journal: Nephrol. Dial. Transplant.. 2004 Mar;19(3):736-8.
To view other free, full-text articles on human participants, please click on the link below.
Reviews from the PubMed Database
Review articles summarize what is currently known about a disease. They discuss research previously published by others.
The terms "Adenine Phosphoribosyltransferase Deficiency" returned 1 free, full-text review articles on human participants.
First 3 results:
Journal: Clin J Am Soc Nephrol. 2012 Sep;7(9):1521-7.
Complete adenine phosphoribosyltransferase (APRT) deficiency is a rare inherited metabolic disorder that leads to the formation and hyperexcretion of 2,8-dihydroxyadenine (DHA) into urine. The low solubility of DHA results in precipitation of this compound and the formation of urinary ...
To view other free, full-text review articles on human participants, please click on the link below.
Symptoms, Diagnosis, and Treatment
There are currently no related results available in GeneReviews.
There are currently no related results available in Genetic Testing Registry.
Clinical Trial Information This information is provided by ClinicalTrials.gov
There are currently no open clinical trials for this condition.
Finding the right clinical trial for Adenine Phosphoribosyltransferase Deficiency can be challenging. However, with TrialsFinder (which uses the Reg4ALL database and privacy controls by Private Access), you can permit researchers to let you know opportunities to consider - all without revealing your identity.