phosphoribosylpyrophosphate synthetase superactivity

Term ID

DOID:0111260

Synonyms

• PRPP synthetase superactivity
• PRPS1 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. (2)

References

• MESH:C567064
• OMIM:300661
• ORDO:3222
• SNOMEDCT_US_2023_03_01:723454008
• UMLS_CUI:C1970827

Ontology

Human Disease   ( DOID:0111260 )