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Old 04-13-2017, 07:15 PM
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janieg janieg is offline
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Join Date: Jan 2014
Location: Maryland
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10 yr Member
janieg janieg is offline
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janieg's Avatar
 
Join Date: Jan 2014
Location: Maryland
Posts: 792
10 yr Member
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Quote:
Originally Posted by mrsD View Post
That is promising! I hope he has something further to suggest for you.
He called me this morning. VERY nice man and very helpful. We probably talked for 10 or 15 minutes, and he explained quite a bit about the genetics of the BTD gene and what my specific mutation meant and doesn't mean.

He advised me to go to my doctor and get the biotinidase enzyme activity test. That's the only sure way to know my level of deficiency. Whether or not it could factor in to my neuropathy is a big unknown, but he'd be very interested in knowing how deficient I am and wants me to let him know.

Like you mentioned, how would anyone ever know they are? Only babies are tested, so the number of adults who ever find out they're deficient are just those 2% - 3% who have children with another 2% to 3% who then go on and incur that 25% chance of having a child born with 2 copies of the variant. It's obviously a very small number.

So I made an appointment with my internist for next Wednesday, and am hoping she'll order the test.

With regard to this acidosis thing, is that something could be tested for. After a quick Google, it looks like there might be a test? I'm still poking around.

Forgot. I flared out of nowhere yesterday after feeling pretty good for several days. Discovered something...the only salad dressing I ever buy has MSG in it.

Last edited by janieg; 04-13-2017 at 09:55 PM.
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