SORD Deficiency is primarily characterized by axonal damage to peripheral nerves. Due to the role of the SORD enzyme in oxidation of sorbitol to fructose, SORD deficiency results in an increase in tissue and blood sorbitol levels. While the majority of CMT2 follows an autosomal dominant inheritance pattern, SORD Deficiency is one of the most common recessive causes of hereditary neuropathy.liii
AT-007-1005 Clinical Study
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