phosphoribosylpyrophosphate synthetase superactivity
Phosphoribosylpyrophosphate (PRPP) synthetase superactivity is an X-linked disorder of purine metabolism associated with hyperuricemia and hyperuricosuria, comprised of two forms: an early-onset severe form characterized by gout, urolithiasis, and neurodevelopmental anomalies (severe PRPP synthetase superactivity) and a mild late-onset form with no neurologic involvement (mild PRPP synthetase superactivity).
MONDO:0019743
obsolete nephropathy secondary to a storage or other metabolic disease (obsolete MONDO:0019743)
excluded_subClassOf
MONDO:0019236
inborn disorder of purine metabolism
is_a
PRPP synthetase superactivity
exact
PRPS1 superactivity
exact
gout, PRPS-related, X-linked recessive
exact
phosphoribosylpyrophosphate synthetase superactivity
exact
phosphoribosylpyrophosphate synthetase superactivity, X-linked recessive
exact
SPBC3D6.06c SPCC1620.06c