Mild phosphoribosylpyrophosphate synthetase superactivity
MONDO:0018463Mild phosphoribosylpyrophosphate (PRPP) synthetase superactivity is the mild and late-onset form of PRPP synthetase superactivity, an X-linked disorder of purine metabolism associated with hyperuricemia and hyperuricosuria, leading to urolithiasis and gout. This form is not associated with any neuropathy or central nervous system (CNS) disorders.
Also known as: mild PRPP synthetase superactivity, mild PRPS1 superactivity
1 clinical trial for this condition and its sub-types.
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Disease
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Metabolic disease
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Hereditary disease
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Inborn errors of metabolism
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Human disease
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Disease of genetic or genomic mechanism
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Inborn disorder of purine or pyrimidine metabolism
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Phosphoribosylpyrophosphate synthetase superactivity
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Disease by developmental or physiological process
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Disease by etiologic mechanism
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