Severe phosphoribosylpyrophosphate synthetase superactivity

MONDO:0018464

Severe phosphoribosylpyrophosphate (PRPP) synthetase superactivity is the severe and early-onset form of PRPP synthetase superactivity, an X-linked disorder of purine metabolism associated with hyperuricemia and hyperuricosuria, that is characterized by urolithiasis, gout and neurodevelopmental anomalies.

Also known as: severe PRPP synthetase superactivity, severe PRPS1 superactivity

1 clinical trial for this condition and its sub-types, 0 tagged with Severe phosphoribosylpyrophosphate synthetase superactivity itself.

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↑ Phosphoribosylpyrophosphate synthetase superactivity (1)

Including sub-types (1) Tagged with Severe phosphoribosylpyrophosphate synthetase superactivity (0)

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