Measurement of Red Blood Cell Sorbitol Dehydrogenase Activity for Fast Screening of SORD ‐Related Neuropathies

Key Points

• The aim is to evaluate SORD activity in red blood cells for rapid screening of SORD-related neuropathies.
• Direct measurement of sorbitol dehydrogenase activity in red blood cells (RBC)
• Comparison with plasma or urine sorbitol levels using mass spectrometry
• Clinical procedures incorporated for efficiency.
• Enables fast screening for SORD-related neuropathies.
• Offers a convenient alternative to traditional testing methods.
• Facilitates quicker clinical decision-making.