Version: 8.0.0
Date: Tue Jan 28 2025
phosphoribosylpyrophosphate synthetase superactivity
DOID:0111260
SummaryAssociated GenesAssociated AllelesAssociated Models
Disease

phosphoribosylpyrophosphate synthetase superactivity

Definition
An inherited metabolic disorder characterized by increased synthesis of phosphoribosylpyrophosphate resulting in increased production of uric acid and purine that has_material_basis_in X-linked recessive inheritance of mutations in PRPS1 on Xq22.3 that result in increased activity of the gene. The mild form of the disease has late-juvenile or early adult onset while the more severe form has infantile or early-childhood onset.
Synonyms
  • PRPP synthetase superactivity
  • PRPS1 superactivity
Cross References
Parent Terms
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