5 Facts you should know about

SORD Deficiency

People with SORD Deficiency experience progressive neuropathy, often beginning in the late teens

Mutations in the SORD gene resulting in loss of the enzyme sorbitol dehydrogenase (SORD) function, and consequent intracellular sorbitol accumulation, were shown to be responsible for disease in a subset of patients previously diagnosed with Charcot-Marie-Tooth disease (CMT2) or distal hereditary motor neuropathy (dHMN)

SORD Deficiency is one of the most common recessive causes of hereditary neuropathy

SORD Deficiency is primarily characterized by axonal damage to peripheral nerves

In SORD Deficiency, the Aldose Reductase enzyme converts glucose to sorbitol, which then builds up in tissues causing symptoms of neuropathy

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