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Could Lack Of Sufficient Supply Of Riboflavin In My Blood And Into The Needed Cells Lead To. Peripheral Muscle Weakness While To Finding A Variant In The SLC52A3 Gene?
Question: I have peripheral muscle weakness that started distally in hands and feet, and then increased up the limbs. For years my Dr. thought it was CMT, but then I went and had genetic testing done and they found a variant in the SLC52A3 gene (c.1381G>T (p.Asp461Tyr).
We were very surprised because it seemed so much like CMT.
Based on this my Dr. was unable to offer any advice and further recommendations, and I have been trying to find some answers. I read your study, and I know I only have one variant, so it is not autosomal, but have you ever seen anything like this before?
My immediate thought is that it had something to do with riboflavin, but my B2 levels are normal, although on the low-end on normal (7 nmol/L). Could it then be that the riboflavin in my blood is not be transported sufficiently into the needed cells? In this case, can I try riboflavin supplementation?
We were very surprised because it seemed so much like CMT.
Based on this my Dr. was unable to offer any advice and further recommendations, and I have been trying to find some answers. I read your study, and I know I only have one variant, so it is not autosomal, but have you ever seen anything like this before?
My immediate thought is that it had something to do with riboflavin, but my B2 levels are normal, although on the low-end on normal (7 nmol/L). Could it then be that the riboflavin in my blood is not be transported sufficiently into the needed cells? In this case, can I try riboflavin supplementation?
Brief Answer:
Not encountered in practice or literature. Would try riboflavin.
Detailed Answer:
I read your question carefully and I understand your and your doctor's puzzlement.
Whether I've encountered in my daily practice patients with that particular mutation with such a CMT similar clinical picture, the answer is no. Mutations in that gene as you might already read are generally related to two conditions called Fazio-Londe disease and Brown-Vialetto-Van Laere syndrome none of which correspond to your age and manner of presentation. However, it is not uncommon for new previously unknown mutations to be found limited to one individual or family.
As for whether that mutation can cause a dysfunction in riboflavin transportation from the intestine yes it is well possible since the protein encoded by that gene is involved in the intestinal transportation of riboflavin. Of course, given that this is not a commonly studied case it would be only a hypothesis, based on the pathogenesis of the other two conditions mentioned above, but it is a well-grounded hypothesis.
I would certainly try riboflavin supplements. While there are no cases like yours I've encountered in literature the other two conditions related to mutations in that gene are treated by riboflavin supplementation was so given the fact that it is a safe naturally found product I believe a trial of riboflavin supplementation is perfectly reasonable and safe, nothing to lose after all.
I remain at your disposal for other questions.
Not encountered in practice or literature. Would try riboflavin.
Detailed Answer:
I read your question carefully and I understand your and your doctor's puzzlement.
Whether I've encountered in my daily practice patients with that particular mutation with such a CMT similar clinical picture, the answer is no. Mutations in that gene as you might already read are generally related to two conditions called Fazio-Londe disease and Brown-Vialetto-Van Laere syndrome none of which correspond to your age and manner of presentation. However, it is not uncommon for new previously unknown mutations to be found limited to one individual or family.
As for whether that mutation can cause a dysfunction in riboflavin transportation from the intestine yes it is well possible since the protein encoded by that gene is involved in the intestinal transportation of riboflavin. Of course, given that this is not a commonly studied case it would be only a hypothesis, based on the pathogenesis of the other two conditions mentioned above, but it is a well-grounded hypothesis.
I would certainly try riboflavin supplements. While there are no cases like yours I've encountered in literature the other two conditions related to mutations in that gene are treated by riboflavin supplementation was so given the fact that it is a safe naturally found product I believe a trial of riboflavin supplementation is perfectly reasonable and safe, nothing to lose after all.
I remain at your disposal for other questions.
Above answer was peer-reviewed by :
Dr. Arnab Banerjee
Thank you so much. I will try supplementation of riboflavin.
Brief Answer:
You're welcome.
Detailed Answer:
You're welcome! I hope you'll feel better soon.
You're welcome.
Detailed Answer:
You're welcome! I hope you'll feel better soon.
Above answer was peer-reviewed by :
Dr. Chakravarthy Mazumdar
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