PRPS1 is an enzyme that catalyzes the phosphoribosylation of ribose 5-phosphate to 5-phosphoribosyl-1-pyrophosphate, which is necessary for purine metabolism and nucleotide biosynthesis. A mutation in PRPS1 may result in PRPS superactivity, a disease characterized by gout and the overproductionof purine nucleotides, uric acid and PRPP. PRPS1 mutations can also lead to a reduction in PRPS1 activity resulting in ARTS syndrome or CMTX5 (Charcot-Marie-Tooth disease X-linked recessive type 5).