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