Understanding SORD Deficiency Disorder  

Another rare CMT subtype is SORD deficiency disorder that affects the body’s ability to process a specific sugar molecule called sorbitol. This is caused by a mutation in the SORD gene, which provides instructions for making an enzyme called sorbitol dehydrogenase.

Sorbitol dehydrogenase helps to break down sorbitol into another molecule called fructose. Fructose can then be further processed by the body and used for energy. However, in individuals with SORD deficiency, the sorbitol dehydrogenase enzyme is either partially or completely non-functional, which leads to a buildup of sorbitol in the body.

The excess sorbitol can cause a range of symptoms, including neurological problems, muscle weakness, and intellectual disability. Other common symptoms may include cataracts, liver damage, and an increased risk of developing diabetes. The severity of these symptoms can vary widely between individuals with SORD deficiency, and some people may not experience any symptoms at all.

SORD deficiency is inherited in an autosomal recessive pattern, which means that a person must inherit two copies of the mutated SORD gene (one from each parent) to develop the condition. There is currently no cure for SORD deficiency, and treatment options are generally focused on managing symptoms and improving quality of life.

To be the first to hear about CMT research updates, new projects and progress and how you can get involved to accelerate drug development, sign up for our email list.