Skip to main content

Thank you for visiting nature.com. You are using a browser version with limited support for CSS. To obtain the best experience, we recommend you use a more up to date browser (or turn off compatibility mode in Internet Explorer). In the meantime, to ensure continued support, we are displaying the site without styles and JavaScript.

  • News & Views
  • Published:

DISEASE GENETICS

Elevated sorbitol underlies a heritable neuropathy

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.

This is a preview of subscription content, access via your institution

Access options

Buy this article

Purchase on Springer Link

Instant access to full article PDF

Prices may be subject to local taxes which are calculated during checkout

Fig. 1: Potential applications of aldose reductase inhibitors in diabetes, sorbitol dehydrogenase deficiency and other inborn errors of metabolism.

References

  1. Cortese, A. et al. Nat. Genet https://doi.org/10.1038/s41588-020-0615-4 (2020).

    Article  PubMed  Google Scholar 

  2. Hotta, N. et al. Diabetes Care 29, 1538–1544 (2006).

    Article  CAS  Google Scholar 

  3. Iyer, S. et al. Dis. Model. Mech. 12, dmm040584 (2019).

    Article  Google Scholar 

  4. Ji, L., Cheng, L. & Yang, Z. J. Diabetes Res. 2017, 7309816 (2017).

    PubMed  PubMed Central  Google Scholar 

Download references

Author information

Authors and Affiliations

Authors

Corresponding author

Correspondence to Eva Morava.

Ethics declarations

Competing interests

The author declares no competing interests.

Rights and permissions

Reprints and permissions

About this article

Check for updates. Verify currency and authenticity via CrossMark

Cite this article

Morava, E. Elevated sorbitol underlies a heritable neuropathy. Nat Genet 52, 469–470 (2020). https://doi.org/10.1038/s41588-020-0619-0

Download citation

  • Published:

  • Issue Date:

  • DOI: https://doi.org/10.1038/s41588-020-0619-0

Search

Quick links

Nature Briefing

Sign up for the Nature Briefing newsletter — what matters in science, free to your inbox daily.

Get the most important science stories of the day, free in your inbox. Sign up for Nature Briefing