A new study identifies sorbitol dehydrogenase (SORD) deficiency as a slowly progressive hereditary motor axonopathy caused by a genetic defect in the second step of the polyol pathway, thus leading to elevated tissue and blood sorbitol. SORD deficiency is the most common recessive cause of neuropathy, for which therapeutic intervention with aldose reductase inhibitors may have potential.

中文翻译：

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山梨醇升高是遗传性神经病的基础。

一项新研究将山梨糖醇脱氢酶（SORD）缺乏症识别为由多元醇途径第二步中的遗传缺陷引起的缓慢进行性遗传性运动轴突病，从而导致组织和血液山梨糖醇升高。SORD缺乏症是神经病的最常见隐性病因，醛糖还原酶抑制剂的治疗干预可能具有潜力。