title: [PRPP synthetase deficiency].
authors.affiliation: Department of Allergy and Rheumatology, University of Tokyo Graduate School of Medicine.
authors.forename: Kaname
authors.initials: K
authors.lastname: Kawasugi
authors.forename: Fujio
authors.initials: F
authors.lastname: Takeuchi
mesh_terms: D003937:Diagnosis, Differential; D006801:Humans; D008607:Intellectual Disability / Q000209:etiology; D011379:Prognosis; D011686:Purine-Pyrimidine Metabolism, Inborn Errors / Q000175:diagnosis / Q000209:etiology / Q000503:physiopathology; D012268:Ribose-Phosphate Pyrophosphokinase / Q000172:deficiency*; D014527:Uric Acid / Q000097:blood*
chemical_list: D014527:Uric Acid; D012268:Ribose-Phosphate Pyrophosphokinase