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Is There A Cure For Gradual Peripheral Weakness For Years Due To C.1381G>T (p.Asp461Tyr) Variant In The SLC52A3 Gene?
Question: I have a unique problem. I have had a gradual peripheral weakness for years now and muscle wasting. My Dr thought it was CMT until we did a genetic test and they found a variant in the SLC52A3 gene. This gene is associated with disease when there is more than one variant, but not when it is just the one. The variant I have is c.1381G>T (p.Asp461Tyr).
The reason I am asking this question is that nobody has any answers for me, and I am afraid they never will. I just need some kind of help or suggestion. Is there ANYTHING that could help, or are there any answers possible?
I can provide the pdf of my genetic test result if needed. All genes important to the nervous system were tested. Thank you for ANY and all help you can provide.
The reason I am asking this question is that nobody has any answers for me, and I am afraid they never will. I just need some kind of help or suggestion. Is there ANYTHING that could help, or are there any answers possible?
I can provide the pdf of my genetic test result if needed. All genes important to the nervous system were tested. Thank you for ANY and all help you can provide.
Brief Answer:
The defect is in a transporter protein. The condition is treatable.
Detailed Answer:
Hi,
I have gone very carefully through the query and the attached report. The SLC52A3 gene provides instructions for making a riboflavin transporter protein called RFVT3 which moves (transports) a vitamin called riboflavin (also called vitamin B2) across the cell membrane of cells of our body. A variation in this gene therefore alters this protein and therefore interferes with vitamin B2 uptake in cells and therefore leads to riboflavin transporter deficiency neuronopathy, the one that you are suffering from.
Unfortunately, we cannot synthesize this protein outside and supply to the body, and neither can we embed the correct gene in the numerous cells throughout the body. Not that we do not understand the problem, based on the current state of technology the scope of intervention is limited but not inexistant.
Let me assure you that high doses of oral riboflavin 5 phosphate may work and you can give it a try. It should be available without a prescription. However, talk to your physician.
It should be reassuring for you to hear that the condition is treatable. Read:
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC0000/
Feel free to write back in case you feel that I could be of any further assistance.
Regards
The defect is in a transporter protein. The condition is treatable.
Detailed Answer:
Hi,
I have gone very carefully through the query and the attached report. The SLC52A3 gene provides instructions for making a riboflavin transporter protein called RFVT3 which moves (transports) a vitamin called riboflavin (also called vitamin B2) across the cell membrane of cells of our body. A variation in this gene therefore alters this protein and therefore interferes with vitamin B2 uptake in cells and therefore leads to riboflavin transporter deficiency neuronopathy, the one that you are suffering from.
Unfortunately, we cannot synthesize this protein outside and supply to the body, and neither can we embed the correct gene in the numerous cells throughout the body. Not that we do not understand the problem, based on the current state of technology the scope of intervention is limited but not inexistant.
Let me assure you that high doses of oral riboflavin 5 phosphate may work and you can give it a try. It should be available without a prescription. However, talk to your physician.
It should be reassuring for you to hear that the condition is treatable. Read:
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC0000/
Feel free to write back in case you feel that I could be of any further assistance.
Regards
Note: For detailed guidance on genetic screening consult a genetics specialist
Above answer was peer-reviewed by :
Dr. Nagamani Ng
Answered by
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