Rare Endocrinology News
5 Facts you should know about
SORD Deficiency
1
People with SORD Deficiency experience progressive neuropathy, often beginning in the late teens
2
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)
3
SORD Deficiency is one of the most common recessive causes of hereditary neuropathy
4
SORD Deficiency is primarily characterized by axonal damage to peripheral nerves
5
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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