Visualize Submit Comment
Metadata
ID DOID:0111260
Name 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.
https://www.ncbi.nlm.nih.gov/pubmed/20301734, https://www.ncbi.nlm.nih.gov/pubmed/8253776
Xrefs

MESH:C567064

OMIM:300661

ORDO:3222

SNOMEDCT_US_2023_03_01:723454008

UMLS_CUI:C1970827

Subsets

DO_rare_slim

Synonyms

PRPP synthetase superactivity [EXACT]

PRPS1 superactivity [EXACT]

Parent Relationships

is_a inherited metabolic disorder

is_a X-linked recessive disease

Add an item to the term tracker