A new study identifies sorbitol dehydrogenase (SORD) deficiency as a slowly progressive hereditary motor axonopathy caused by a genetic defect in the second step of the polyol pathway, thus leading to elevated tissue and blood sorbitol. SORD deficiency is the most common recessive cause of neuropathy, for which therapeutic intervention with aldose reductase inhibitors may have potential.
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Morava, E. Elevated sorbitol underlies a heritable neuropathy. Nat Genet 52, 469–470 (2020). https://doi.org/10.1038/s41588-020-0619-0
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DOI: https://doi.org/10.1038/s41588-020-0619-0