Aberrant expression of PRPS1 has been implicated in many human diseases, including hearing loss, uric acid overproduction, hypotonia, ataxia, neurodevelopment abnormalities, postlingual hearing impairment, X-linked nonsyndromic sensorineural deafness (DFNX-2), Charcot-Marie-Tooth disease-5 (CMTX5), Arts syndrome, prenatal growth restrictions, retinal dystrophy, diabetes insipidus, and white matter disease [16,17,18,19,20,21,22]. The gene discussed is PRPS1; the disease is Ataxia.