Greetings, mrsD,

So I'm once again going down the rabbit hole.

Compliments of genetic testing, I've learned that I have one bad copy of a variant associated with biotinidase deficiency. Two copies is bad news, but supposedly one copy causes no issues except that my biotinidase levels may be lower than what they should be. Apparently this variant is not very common and appears in only 2% to 3% of the population. The thing that I also noted is that it apparently affects metabolism, and I know I have something weird going there as well.

I've seen you post on biotin several times, and just wonder if you have any insight into this? I can't make heads nor tails of these diagrams to figure what I might be able to try to improve the situation beyond taking more biotin (I take 10 mg/day). I noticed they talk about acidosis here as well, and if you recall, I have those odd "rush-like" sensations in isolated parts of my body which you at one time said it sounded like acidosis.

http://www.wohproject.org/media/univ...deficiency.pdf

Any thoughts at all appreciated.

Janie

Putting some additional reference info here:

BTD: c.1330G>C* rs13078881

rs1378881 - SNPedia


This variant is implicated in partial and profound biotinidase deficiency. Alone, this variant is estimated to have a 52% loss of enzymatic activity. This variant is often found with A171T, and together they are reported to cause profound deficiency. Notably there is a report of asymptomatic double-mutant adults, so symptoms may have variable penetrance. This variant is found compound heterozygously with more serious mutations in cases of partial biotinidase deficiency.

A171T - (BTD):c.511G>A (p.Ala171Thr) rs13073139

I see 3 things so far, but I have not studied the charts on your link fully yet.

1) you might need some carnitine support.

2) the acidosis is created by two acid problems. The most obvious one is lactic acidosis. This affects muscles. This may be why your leg spasms after activity.

3) you will most likely need biotin supplements for life.

One article I read today says people with only one good copy of the normal gene may only show symptoms when stressed as adults. This means you need to watch physical fatigue carefully.

To start with, I have a suggestion for the acidosis. I am using this now myself... Alka Seltzer Gold. This is the alkaseltzer without aspirin. It is only available online and not in stores. If you read the reviews, you find Lyme patients use the Gold to reduce Lyme pain. I found that very intriguing, since most Lyme pain is nerve pain.

Amazon.com: Alka-Seltzer Gold Tablets- Non-Aspirin, 36 Count Box: Health & Personal Care

This formula is similar to a product doctor's use called
K-salts. K-salts are used to block sudden allergic reactions in children by specialists in allergies and environmental doctors.

It is more complete, the Gold, than plain bicarbonate tablets.
I'd try them if I were you. Start by using one tablet which 1/2 of the dual pack they come as. I am using only one tablet a day now, and it appears to be working. Helping allergies and my severe knee attack which might have been gout. I have borderline high uric acid for many years, but the doctor says no treatment is really necessary for it. duh? But my knee which was extremely acute, is now no longer like that. I have pain level 2 in it now compared to the pain 10 when the sudden attack happened.
When I searched OTC gout treatments, bicarbonate came up at many sites.

I noticed other improvements too with the Gold-- my stinging eyes stopped, my toes stopped hurting at night, and I am sleeping better.

So I think it is worthwhile to try AlkaSeltzer Gold and see what happens for you. Post to me after you have been doing one tablet each day, and we'll see how you react. You might need more, but my response to just one, tells me that it might be a very subtle thing and a low dose may be all you need.

And I'd stop the benfotiamine for now and try low dose carnitine instead. 250mg, or if you cannot find it, then 500mg a day for a month. See how you feel.

I also saw on one of your charts, that lysine is blocked with this deficiency. Since lysine is so inexpensive and benign to take you might need this too. But it is your decision to take it. I am not sure how lysine fits in with this deficiency.

It is amazing how little we understand about our biochemistries.
You would have never known this without that test, and no doctor would have diagnosed you with this genetic mutation either. If you are married and plan to have children I'd have your husband take the DNA test too. If he is running on 1/2 biotin levels...you could have a child who could be really in trouble.

Can't thank you enough. I've placed the Amazon order and will do all you suggested.

This variant showed up in the whole exome test I took and was right at the top of the variant list. 23andme also tested and shows the SNP, but it's a crapshoot what variants they put in reports (when they were allowed).

Children aren't an issue as neither of my sisters nor I have been fruitful and multiplied. My one sister who also took the 23andme test has the variant as well.

The biochemistry is just baffling to me, so I appreciate your take on it.

Will report back after I've been on the regimen a bit. So glad you're feeling better!

Folate
 

mrsD my Folate is over 24ng/ml trying to understand is this can cause any issues

Thanks

People with low B12 can have elevated folate. This is called the
folate trap. If you take vitamins or eat lots of fortified food the folate could show high in testing.

mrsD, Thanks
 

I am not diabetic my A1C is in normal range, fasting glucose is 93. But if I eat foods that push my sugar up I have burning in the feet. I think back to when my wife and I would go out for Burger and a Beer by the end of the night I was on fire and the next morning it would go right thru me. I have went on a gluten free diet and stopped all processed foods, I feel better but time will tell. Thanks

MTHFR Mutations and Supplements
 

I just got my 23andme completed and I am Compound Heterozygous Mutation I have one of each. Reading thru all the data out there on this it is confusing.
To remove toxins I need to exercise more got it, but for the multi vitamin I take I need to make sure it contains no folic acid is this correct and I need to supplement with methylfolate

Thanks for the help

It has been suggested that folic acid will interfere with methylfolate, especially at the blood brain barrier. But I haven't seen proof yet of that conclusively.

Those in the US will find it difficult to get rid of all folic acid from the food fortification program.

Heterzygous means you have some methylation going on, but perhaps not enough for a full life.

I am not an expert on this methylation stuff. Have you been to
MTHFR.net yet? That site is pretty complete and you can study it at your leisure.

Check your other SNPs listed too. Janieg here just found out in her genetic list that she has a mutation involving biotinidase, which recycles biotin. So she needs high dose biotin to make up for this lack.

As time passes here, we are seeing more and more posters showing up with mutations in their DNA which contribute to PN and many other medical problems.

It is a good thing you had the testing.;)

So I th ink the Alka Seltzer Gold has helped tremendously with the horrendous "rushes" I was having. They've gone from waking me up at night, to barely noticeable.

I have to admit that I cheated, though. When I wasn't feel much of a difference early on, I went to one in the morning and one in the evening. I truly think it's helping.

I had another "interesting" experience a couple of weeks ago. I decided to step my war on gut health and increased my probiotic intake both supplement and food-wise. What ensued was nothing beyond intestinal hell. Now I can't say for sure that was the cause, and maybe it's possible that I got a virus or something, but holy schnikes did I get sick. I missed 2 1/2 days of work which is the most I've missed in decades. Anything that went in my mouth went right through me. I was trying to stay hydrated so I was downing water frequently, and for nearly 18 hours straight, I was running to the bathroom at least every 10 minutes! I also had a low grade fever for two days, and of course every nerve in my body was on fire.

Do you think it's possible to herx from probiotics? I keep hoping maybe I killed off some baddies by overrunning my system with the good stuff.

My hubby had 3 antibiotics because he was bitten by a spider and didn't notice and it became a cellulitis and had to go to the ER for an IV.

Since then, I made him finally quit smoking his pipe... no easy task. Then the GI stuff started over the winter. We have been trying all sorts of stuff. Probiotics gave him diarrhea. His usual foods gave him monster gas. He had bouts of terrible nausea which was unpredictable. Metamucil gave him more gas.

But we finally found out what works... Benefiber. It has been a long haul to get to the comfort zone he likes now.

The AlkaSeltzer Gold has mannitol in it... if you take two a day you might be getting the laxative action of mannitol?

I am taking one tablet of AlkaSeltzer original in the morning and one tablet of AlkaSeltzer Gold at night. When I took 2 Gold at once I did get upset GI wise... but that was only once. I am super sensitive to being loose anyway. So I only use one Gold now at night.

The Equate version of Alka Seltzer original does not have the mannitol in it That is the brand I use. The mannitol I guess is to block the saltiness taste of the Gold ingredients.

Your option therefore is to try just sodium bicarb alone when you want more bicarb. I am still doing well with no more burning at night on my current dosing. Because I have the joint pain of arthritis, I still want "some" aspirin, so I use the AlkaSeltzer original, but I don't want so much aspirin that 2 tablets provide.

I put this link up on another thread so incase you haven't seen it there here it is again:

People of the Acid: Acidosis and Pain - Pain Online