Thus, the variants in the PRPS1 gene can lead to different conditions due to hypoactivity, such as X‐linked CMT type 5 (CMTX5), Arts syndrome and X‐linked deafness (DFNX1); or PRS superactivity, which can induce gout (Agrahari, 2018). The gene discussed is PRPS1; the disease is Lethal ataxia with deafness and optic atrophy.