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Sorbitol is a polyol arising from intracellular glucose as catalyzed by the aldose reductase enzyme. Sorbitol is normally transformed into fructose by the sorbitol deshydrogenase (SORD) enzyme. It has been shown that biallelic pathogenic variants in the SORD gene could lead to rare neuropathies i.e. Charcot-Marie-Tooth axonal type 2 (CMT2) disease and distal hereditary motor neuropathy (dHMN) with abnormally elevated serum sorbitol levels. In addition, sorbitol levels could be related to the neurological severity of PMM2-CDG. In this context, aldose reductase inhibitors (i.e. Elparestat) could be promising therapeutic issues.


Since july 2022, serum sorbitol can be measured at Bichat hospital using mass spectrometry.


For any questions related to the serum sorbitol measurement, you can contact us here.

PMM2 and Sorbitol.png
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