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SORD Deficiency

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What is Sorbitol Dehydrogenase (SORD) Deficiency?

Sorbitol Dehydrogenase (SORD) Deficiency is a recently discovered rare, genetic metabolic disease. 

People with SORD Deficiency are missing a key enzyme needed to metabolize a sugar called sorbitol.

Before the discovery of the SORD gene, patients with SORD Deficiency were diagnosed based on their symptoms as having Charcot-Marie-Tooth disease (CMT2) or distal hereditary motor neuropathy (dHMN). The recent discovery that disease symptoms in CMT2 and dHMN can be caused by genetic mutations in the SORD enzyme, now gives people living with SORD Deficiency, and their physicians, greater understanding of their specific disease.  It also provides the opportunity to participate in a clinical trial of an investigational new treatment targeting the underlying cause of SORD Deficiency. 

How many people have SORD Deficiency?

SORD Deficiency is a rare disease that impacts 1 in every 100,000 people.  In the US, it is estimated that there are only 3,300 individuals living with the disease.

SORD Deficiency is a form of hereditary neuropathy, which means that this disease was passed down from both parents’ genes.  Not all people with SORD Deficiency have a family history of hereditary neuropathy.

What happens in the body of someone living with SORD Deficiency?

Glucose is a simple sugar that the body converts into fructose for energy.  One of the ways the body breaks down glucose is through a two-step metabolic pathway.  

In this metabolic pathway, two enzymes work to process glucose and then sorbitol. 

  1. In the first step, the enzyme Aldose Reductase metabolizes glucose into sorbitol 
  2. In the second step, the enzyme Sorbitol Dehydrogenase (SORD) converts sorbitol into fructose

Symptoms in those with SORD Deficiency are caused by toxic high levels of sorbitol in the body.

People living with SORD Deficiency do not have enough of the enzyme needed to convert sorbitol into fructose.  When sorbitol isn’t processed, it builds up in blood and tissues and causes damage throughout the body.  Individuals with SORD Deficiency have >100 times the sorbitol concentration in their blood compared with unaffected individuals.

Studies have also shown that blocking Aldose Reductase (the enzyme responsible for producing sorbitol) may help normalize sorbitol levels and potentially manage the symptoms of the disease.  

What are the symptoms of SORD Deficiency?

Excess toxic sorbitol can lead to various symptoms, which can worsen over time and may include:

  • Difficulty walking, which can range from mild (stumbling) to severe (need for a walker or wheelchair, and in some cases near-paralysis)
  • Foot deformities, with potential need and use of orthotics
  • Muscle weakness in the arms and legs
  • 98% will have weakness in their legs
  • 59% will have weakness in their arms
  • Twitching or tremors
  • Sensory impairment
  • Neuropathic pain

Symptoms of SORD Deficiency often start around age 17 but can happen at any time between the ages of 9 and 25.  Traditional management focuses solely on monitoring and addressing symptoms, such as providing pain medicine and getting orthotics or surgery to address foot deformities.

What should I know about the SORD Deficiency trial?

Right now, there are no FDA-approved treatments for SORD Deficiency. 

Scientists are working to learn more about a way to potentially help.  Blocking the enzyme Aldose Reductase may help normalize sorbitol levels and potentially manage the symptoms of the disease.  

Who do I contact to inquire about participating in the SORD Deficiency trial?

Please fill out the contact form.

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