title: Evidence of a new syndrome involving hereditary uric acid over-production, neurological complications and deafness.
mesh_terms: D019411:Clinical Laboratory Techniques; D003638:Deafness / Q000150:complications*; D004912:Erythrocytes / Q000378:metabolism; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D007700:Kinetics; D008297:Male; D009422:Nervous System Diseases / Q000150:complications*; D010754:Phosphoribosyl Pyrophosphate / Q000097:blood; D011686:Purine-Pyrimidine Metabolism, Inborn Errors / Q000175:diagnosis*; D012265:Ribonucleotides / Q000097:blood; D013577:Syndrome; D014527:Uric Acid / Q000378:metabolism*
chemical_list: D012265:Ribonucleotides; D014527:Uric Acid; D010754:Phosphoribosyl Pyrophosphate