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 22 free, full-text research articles on human participants.
First 3 results:
Journal: J. Chromatogr. B Analyt. Technol. Biomed. Life Sci.. 2016 Nov;1036-1037():170-177.
Adenine phosphoribosyltransferase (APRT) deficiency is a hereditary disorder that leads to excessive urinary excretion of 2,8-dihydroxyadenine (DHA), causing nephrolithiasis and chronic kidney disease. Treatment with allopurinol or febuxostat reduces DHA production and attenuates ...
Journal: Am. J. Kidney Dis.. 2016 Mar;67(3):431-8.
Adenine phosphoribosyltransferase (APRT) deficiency is a purine metabolism disorder causing kidney stones and chronic kidney disease (CKD). The course of nephrolithiasis and CKD has not been well characterized. The objective of this study was to examine long-term kidney outcomes in ...
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 ...
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 4 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 ...
Journal: Hinyokika Kiyo. 1998 Oct;44(10):725-8.
A 35-year-old female was referred to our clinic with a complaint of left flank pain in 1993. Drip infusion pyelography showed a filling defect of 25 x 24 mm in size in the left ureteropelvic junction. Computed tomography and ultrasonography revealed it as the renal stone. Percutaneous ...
Journal: Hinyokika Kiyo. 1990 Jan;36(1):73-6.
A 37-year old female was admitted with a complaint of gross hematuria. Intravenous pyelography and retrograde pyelography showed right non-functioning kidney with a radiolucent stone in the ureter. Computerized tomographic scan revealed right hydronephrosis and ureteral stone. Ureterolithotomy ...
To view other free, full-text review articles on human participants, please click on the link below.
Symptoms, Diagnosis, and Treatment
https://ghr.nlm.nih.gov/gene/APRT
https://ghr.nlm.nih.gov/condition/lesch-nyhan-syndrome
https://ghr.nlm.nih.gov/gene/HPRT1
https://ghr.nlm.nih.gov/gene/NDUFB9
https://ghr.nlm.nih.gov/gene/DMGDH
https://ghr.nlm.nih.gov/gene/MTAP
https://ghr.nlm.nih.gov/gene/SLC52A1
https://ghr.nlm.nih.gov/gene/UMPS
https://ghr.nlm.nih.gov/gene/NDUFS7
https://ghr.nlm.nih.gov/gene/NNT
https://ghr.nlm.nih.gov/gene/SLC52A2
https://ghr.nlm.nih.gov/gene/AK2
https://ghr.nlm.nih.gov/gene/MTR
https://ghr.nlm.nih.gov/condition/riboflavin-transporter-deficiency-neuronopathy
https://ghr.nlm.nih.gov/gene/LIPA
https://ghr.nlm.nih.gov/gene/MT-TS1
https://ghr.nlm.nih.gov/gene/FLAD1
https://ghr.nlm.nih.gov/gene/GMPS
https://ghr.nlm.nih.gov/gene/TPCN2
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: Primary Hyperoxaluria; Cystinuria; Adenine Phosphoribosyl Transferase Deficiency; Dent Disease
Condition Summary: Hyperoxaluria; Cystinuria; Dent Disease; Lowe Syndrome; Adenine Phosphoribosyltransferase Deficiency
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.