Term Name: phosphoribosylpyrophosphate synthetase superactivity
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.
Ontology: Human Disease [DOID:0111260]   ( DOID:0111260 )

Relationships
is a type of: inherited metabolic disorder X-linked recessive disease