Inosine triphosphatase deficiency

Common Name(s)

Inosine triphosphatase deficiency

Inosine triphosphate pyrophosphohydrolase (ITPase) deficiency is a common inherited condition characterized by the abnormal accumulation of inosine triphosphate (ITP) in erythrocytes ({3:Sumi et al., 2002}).
 

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Inosine triphosphatase 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 "Inosine triphosphatase deficiency" returned 2 free, full-text research articles on human participants. First 3 results:

Crystal structure of human inosine triphosphatase. Substrate binding and implication of the inosine triphosphatase deficiency mutation P32T.
 

Author(s): Pål Stenmark, Petri Kursula, Susanne Flodin, Susanne Gräslund, Robert Landry, Pär Nordlund, Herwig Schüler

Journal: J. Biol. Chem.. 2007 Feb;282(5):3182-7.

 

Inosine triphosphatase (ITPA) is a ubiquitous key regulator of cellular non-canonical nucleotide levels. It breaks down inosine and xanthine nucleotides generated by deamination of purine bases. Its enzymatic action prevents accumulation of ITP and reduces the risk of incorporation ...

Last Updated: 29 Jan 2007

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Association of inosine triphosphatase 94C>A and thiopurine S-methyltransferase deficiency with adverse events and study drop-outs under azathioprine therapy in a prospective Crohn disease study.
 

Author(s): Nicolas von Ahsen, Victor W Armstrong, Christoph Behrens, Christian von Tirpitz, Andreas Stallmach, Hans Herfarth, Jürgen Stein, Peter Bias, Guido Adler, Maria Shipkova, Michael Oellerich, Wolfgang Kruis, Max Reinshagen, Ekkehard Schütz

Journal: Clin. Chem.. 2005 Dec;51(12):2282-8.

 

Azathioprine (aza) therapy is beneficial in the treatment of inflammatory bowel disease, but 10%-30% of patients cannot tolerate aza therapy because of adverse drug reactions. Thiopurine S-methyltransferase (TPMT) deficiency predisposes to myelotoxicity, but its association with other ...

Last Updated: 24 Nov 2005

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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 "Inosine triphosphatase deficiency" returned 0 free, full-text review articles on human participants.

 
 
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Symptoms, Diagnosis, and Treatment

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Clinical Trial Information This information is provided by ClinicalTrials.gov

There are currently no open clinical trials for this condition.