Sorbitol dehydrogenase gene (SORD) is inherited as autosomal recessive and its different type biallelic mutations have been defined as the cause of distal hereditary peripheral neuropathy (dHMN) and charcot marie tooth (CMT) disease in the last years. With the newly defined cases, electrophysiological, clinical and genetic features will become clear. Furthermore, ongoing studies to reverse the clinical outcome caused by the high sorbitol amount caused by this gene defect are promising in terms of treatment. In this study, we described a Turkish case, a male patient with a SORD gene homozygous novel c.755G>T p.(Gly252Val) missense mutation and positive symptoms.