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.
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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 18 free, full-text research articles on human participants.
First 3 results:
Journal:
Adenine phosphoribosyltransferase deficiency (APRTD) is an under estimated genetic form of kidney stones and/or kidney failure, characterized by intratubular precipitation of 2,8-dihydroxyadenine crystals (2,8-DHA). Currently, five pathologic allelic variants have been identified ...
Journal: J. Am. Soc. Nephrol.. 2014 Apr;25(4):671-4.
Adenine phosphoribosyltransferase deficiency is a rare autosomal recessive disorder manifesting as urolithiasis or crystalline nephropathy. It leads to the generation of large amounts of poorly soluble 2,8-dihydroxyadenine excreted in urine, yielding kidney injury and in some patients, ...
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 ...
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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 "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 Genetics Home Reference.
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
Condition Summary: Hyperoxaluria; Cystinuria; Dent Disease; Lowe Syndrome; Adenine Phosphoribosyltransferase Deficiency
Condition Summary: Primary Hyperoxaluria; Cystinuria; Adenine Phosphoribosyl Transferase Deficiency; Dent Disease
Condition Summary: Primary Hyperoxaluria; Dent Disease; Cystinuria; APRT Deficiency
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.