Urine Sorbitol and Xylitol for the Diagnosis of Sorbitol Dehydrogenase Deficiency–Related Neuropathy
These data demonstrate the clinical utility of urine sorbitol and xylitol analysis in the screening and diagnosis of SORD deficiency-related neuropathy. In addition, this is the first description of elevated xylitol in SORD deficiency as a clinically informative biomarker, which may increase the specificity of biochemical testing.
Authors
- Justin T. Mhoon (ORCID: https://orcid.org/0009-0000-4257-1715)
- Josef Alawneh (ORCID: https://orcid.org/0000-0002-7703-2540)
- Vincent J. Carson (ORCID: https://orcid.org/0000-0002-0402-4849)
- Karlla W. Brigatti (ORCID: https://orcid.org/0000-0002-9178-815X)
- Estelle Lauer (ORCID: https://orcid.org/0009-0000-1850-2330)
- Alanna E. Koehler (ORCID: https://orcid.org/0000-0002-0148-7418)
- Alan R. Albright (ORCID: https://orcid.org/0009-0002-1613-812X)
- Tiffany Grider (ORCID: https://orcid.org/0000-0002-2236-9218)
- Michael E. Shy (ORCID: https://orcid.org/0000-0001-8460-6971)
- William Laxen (ORCID: https://orcid.org/0000-0002-7821-3511)
- Perry R Loken (ORCID: https://orcid.org/0009-0000-5181-4213)
- A Gauthier (ORCID: https://orcid.org/0009-0004-2552-7009)
- Pooja Parmar (ORCID: https://orcid.org/0009-0002-9684-5528)
- Devin Oglesbee (ORCID: https://orcid.org/0000-0002-7147-5527)
- Dietrich Matern (ORCID: https://orcid.org/0000-0001-6298-4138)
- Silvia Tortorelli (ORCID: https://orcid.org/0000-0001-8056-9544)
- Jordan Bontrager (ORCID: https://orcid.org/0009-0001-1549-0255)
- Rami Massie (ORCID: https://orcid.org/0000-0001-8219-1020)
- Angela M. Pickart (ORCID: https://orcid.org/0009-0004-3105-3372)
- Kyle Salsbery (ORCID: https://orcid.org/0009-0008-8775-8960)
- Amy White (ORCID: https://orcid.org/0000-0001-8226-615X)
- Zhiyv Niu (ORCID: https://orcid.org/0000-0001-6068-5505)
- Carol Smith (ORCID: https://orcid.org/0009-0008-1798-8488)
- D. Herrmann (ORCID: https://orcid.org/0000-0002-9030-9516)
- Patricia Hall (ORCID: https://orcid.org/0000-0001-9218-6233)
- Bipasha Mukherjee‐Clavin (ORCID: https://orcid.org/0000-0002-0770-5850)
- Cam‐Tu Émilie Nguyen (ORCID: https://orcid.org/0009-0008-6389-380X)
- Matthew J. Schultz (ORCID: https://orcid.org/0000-0002-6544-0766)
- Dimitar K. Gavrilov (ORCID: https://orcid.org/0000-0002-4297-1695)
- Camille Pilon-Cadieux (ORCID: https://orcid.org/0009-0009-5530-4996)
Institutions
- Montreal Neurological Institute and Hospital (CA)
- Clinic for Special Children (US)
- Johns Hopkins University (US)
- Duke University (US)
- Johns Hopkins Medicine (US)
- Centre Hospitalier Universitaire Sainte-Justine (CA)
- University of Rochester Medical Center (US)
- Sheikh Shakhbout Medical City (AE)
- Mayo Clinic in Arizona (US)
- University of Iowa Health Care (US)
Publication Details
- Journal
- Neurology
- Published
- 2025-11-12
- DOI
- https://doi.org/10.1212/wnl.0000000000214425
- Citations
- 2
- Primary Topic
- Metabolism and Genetic Disorders
- Type
- article
- Field-Weighted Citation Impact
- 2.64