Adenine Phosphoribosyltransferase Deficiency

Common Name(s)

Adenine Phosphoribosyltransferase Deficiency

Description for this condition is not yet available.
 

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Adenine Phosphoribosyltransferase Deficiency" 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 "Adenine Phosphoribosyltransferase Deficiency" returned 17 free, full-text research articles on human participants. First 3 results:

Adenine phosphoribosyltransferase (APRT) deficiency: identification of a novel nonsense mutation.
 

Author(s): Rea Valaperta, Vittoria Rizzo, Fortunata Lombardi, Chiara Verdelli, Marco Piccoli, Andrea Ghiroldi, Pasquale Creo, Alessio Colombo, Massimiliano Valisi, Elisabetta Margiotta, Rossella Panella, Elena Costa

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 ...

Last Updated: 12 Jul 2014

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Adenine phosphoribosyltransferase deficiency as a rare cause of renal allograft dysfunction.
 

Author(s): Kati Kaartinen, Ulla Hemmilä, Kaija Salmela, Anne Räisänen-Sokolowski, Timo Kouri, Satu Mäkelä

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, ...

Last Updated: 1 Apr 2014

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[The first case of adenine phosphoribosyltransferase deficiency with APRT Q0 (M1V) mutation in Japan].
 

Author(s): Hirokazu Ikeda, Tsuneki Watanabe, Yoko Fujimoto, Shouhei Yamamoto, Ichiro Hosaki, Keiichi Isoyama, Shinya Kawano, Masahiro Chiba

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 ...

Last Updated: 9 Feb 2011

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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:

Adenine phosphoribosyltransferase deficiency.
 

Author(s): Guillaume Bollée, Jérôme Harambat, Albert Bensman, Bertrand Knebelmann, Michel Daudon, Irène Ceballos-Picot

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 ...

Last Updated: 10 Sep 2012

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Symptoms, Diagnosis, and Treatment

There are currently no related results available in GeneReviews.

There are currently no related results available in Genetic Testing Registry.

 
 
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Clinical Trial Information This information is provided by ClinicalTrials.gov

Health-related Quality of Life in Rare Kidney Stone
 

Status: Recruiting

Condition Summary: Primary Hyperoxaluria; Cystinuria; Adenine Phosphoribosyl Transferase Deficiency; Dent Disease

 

Last Updated: 14 Jan 2015

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Rare Kidney Stone Consortium Patient Registry
 

Status: Recruiting

Condition Summary: Primary Hyperoxaluria; Dent Disease; Cystinuria; APRT Deficiency

 

Last Updated: 25 May 2015

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Biobank Protocol, Rare Diseases Clinical Research Network
 

Status: Recruiting

Condition Summary: Primary Hyperoxaluria; Dent Disease; APRT Deficiency; Cystinuria

 

Last Updated: 25 May 2015

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