Shoshana Shendelman, PhD, President and Chief Executive Officer of Applied Therapeutics, provides an overview of sorbitol dehydrogenase (SORD) deficiency.
SORD Deficiency is a rare genetic disorder that affects the body’s ability to metabolize sorbitol, a sugar alcohol commonly found in fruit and other foods. This rare disease is caused by mutations in the SORD gene, that is involved in the synthesis of sorbitol dehydrogenase.
The buildup of sorbitol leads to a wide range of symptoms. These can include neurological problems, muscle weakness, intellectual disability, developmental delay, seizures, and cataracts. This condition may often be misdiagnosed with Charcot-Marie-Tooth disease.
There is currently no treatment for this condition, however Govorestat is a aldose reductase inhibitor in development for treatment.
To learn more about SORD deficiency and other genetic conditions, visit checkrare.com/diseases/congenital-and-genetic-conditions/