Phosphoribosylpyrophosphate synthetase superactivity

Common Name(s)

Phosphoribosylpyrophosphate synthetase superactivity

Phosphoribosylpyrophosphate synthetase I superactivity is an X-linked inborn error of metabolism in which increased enzyme activity is associated with hyperuricemia and gout. Some affected individuals have neurodevelopmental abnormalities, particularly sensorineural deafness ({7:Becker et al., 1988}; {16:Roessler et al., 1993}). Although different kinetic defects affecting the PRPS1 enzyme have been identified in this disorder, the common pathway involves increased synthesis of phosphoribosylpyrophosphate (PRPP), which leads to increased uric acid and purine production ({1:Becker, 2001}).
 

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Phosphoribosylpyrophosphate synthetase superactivity" for support, advocacy or research.

There are currently no organizations listed in Disease InfoSearch that support this condition. Create a listing.

 

 

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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 "Phosphoribosylpyrophosphate synthetase superactivity" returned 5 free, full-text research articles on human participants. First 3 results:

Overexpression of the normal phosphoribosylpyrophosphate synthetase 1 isoform underlies catalytic superactivity of human phosphoribosylpyrophosphate synthetase.
 

Author(s): M A Becker, W Taylor, P R Smith, M Ahmed

Journal: J. Biol. Chem.. 1996 Aug;271(33):19894-9.

 

To define the enzymatic and genetic basis of X-linked phosphoribosylpyrophosphate synthetase (PRS) catalytic superactivity, we measured concentrations of X-linked PRS1 and PRS2 isoforms in cultured fibroblasts and lymphoblasts by immunoblotting after separation by polyacrylamide-urea ...

Last Updated: 3 Oct 1996

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The genetic and functional basis of purine nucleotide feedback-resistant phosphoribosylpyrophosphate synthetase superactivity.
 

Author(s): M A Becker, P R Smith, W Taylor, R Mustafi, R L Switzer

Journal: J. Clin. Invest.. 1995 Nov;96(5):2133-41.

 

The genetic and functional basis of phosphoribosylpyrophosphate synthetase (PRS) superactivity associated with purine nucleotide inhibitor-resistance was studied in six families with this X chromosome-linked purine metabolic and neurodevelopmental disorder. Cloning and sequencing ...

Last Updated: 21 Dec 1995

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Human X-linked phosphoribosylpyrophosphate synthetase superactivity is associated with distinct point mutations in the PRPS1 gene.
 

Author(s): B J Roessler, J M Nosal, P R Smith, S A Heidler, T D Palella, R L Switzer, M A Becker

Journal: J. Biol. Chem.. 1993 Dec;268(35):26476-81.

 

Superactivity of phosphoribosylpyrophosphate synthetase (PRS) is an X chromosome-linked disorder of purine metabolism, characterized by gout with uric acid overproduction and, in some families, neurodevelopmental impairment. Two highly homologous isoforms of PRS (PRS1 and PRS2), each ...

Last Updated: 13 Jan 1994

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Reviews from the PubMed Database

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The terms "Phosphoribosylpyrophosphate synthetase superactivity" returned 0 free, full-text review articles on human participants.

 
 
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