phosphoribosylpyrophosphate synthetase superactivity

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phosphoribosylpyrophosphate synthetase superactivity2016-11-27T16:42:44+00:00

phosphoribosylpyrophosphate synthetase superactivity 

METABOLISM

Definition An X-linked inherited disorder (OMIM:300661) characterised by an uptick in enzyme activity, resulting in overproduction of purine, gout and uric acid urolithiasis.

Molecular pathology Defects of PRPS1, which encodes an enzyme that catalyses a critical step in purine metabolism and nucleotide biosynthesis,  cause phosphoribosylpyrophosphate synthetase superactivity. 

Synonym Gout—PRPS-related 

References http://www.uniprot.org/uniprot/P60891

http://www.omim.org/entry/300661 

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