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On this page, you will find information about a genetic change that was identified in a UDN participant. We are trying to find others with the same or similar condition.
Sharing information on this website is not a requirement of UDN participation. Only descriptions about participants who give explicit consent will appear here.
A change in this gene was identified in a UDN participant with elevated creatinine kinase levels, breakdown of muscle tissue (rhabdomyolysis), and discoloration of urine (pigmenturia) (read full description).
Sep 06, 2022
SORD encodes a protein known as sorbitol dehydrogenase. This protein is important for the catalzyation of polyols and their corresponding ketoses. Sorbitol dehydrogenase also oxidizes sorbitol into fructose by using NAD(+) cofactor (Carr and Markham, 1995).
A change in this gene was identified in a UDN participant.
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