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Partial Biotinitase Deficiency, 23andme Test, BTD GENE POLL?

Discussion in 'Genetic Testing and SNPs' started by Radio, Jan 9, 2014.

  1. Radio

    Radio *****

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    Partial Biotinitase Deficiency, 23andme Test, BTD GENE POLL?


    What Genes are related to the biotinidase deficiency?

    Mutations in the BTD gene cause biotinidase deficiency.

    The BTD gene provides instructions for making an enzyme called biotinidase. This enzyme helps the body reuse biotin, a B vitamin found in foods such as liver, egg yolks, and milk. Biotinidase removes biotin that is bound to proteins in food, leaving the vitamin in its free (unbound) state. The body needs free biotin to break down fats, proteins, and carbohydrates effectively. Biotinidase also recycles biotin within the body.

    Mutations in the BTD gene reduce or eliminate the activity of biotinidase. Profound biotinidase deficiency results when the activity of biotinidase is reduced to less than 10 percent of normal. Partial biotinidase deficiency occurs when biotinidase activity is reduced to between 10 percent and 30 percent of normal. Without enough of this enzyme, biotin cannot be separated from proteins or recycled normally. As a result, the body is less able to process important nutrients. These defects underlie the potentially serious medical problems associated with biotinidase deficiency. Partial biotinidase deficiency is a milder form of this condition.
    Last edited: Jan 9, 2014
  2. Valentijn

    Valentijn Activity Level: 3

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    @Radio - Interesting stuff! I took a look at 23andMe data for 11 ME/CFS patients (P1 - P11) and 11 "controls" (C1 - C11) to see what turns up. Purple is for genotypes with a prevalence of less than 1% in the general population, red for 1 - 2.5%, and orange for 2.5 - 5%.

    BTD.gif

    The RSID's in underlined red font are both pathogenic missense mutations. The one present in 3 ME/CFS patients, rs13078881, results in enzyme activity being reduced to 48% of normal when heterozygous ( http://www.ncbi.nlm.nih.gov/pubmed/9654207 ). Hence at least 3 of us have a problem there, and a 4th patient (P4) has several rare variations which might or might not be having an impact, but aren't known to be missense mutations.

    I'm one of the three with the missense mutation - could it be involved in my egg intolerance and milk intolerance at all? Or could my egg and milk intolerance be aggravating the problems caused by a subclinical biotinidase deficiency?
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  3. Valentijn

    Valentijn Activity Level: 3

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    It looks like a complete deficiency would require 5-10mg of B7 supplementation per day. 100% of the RDA (used in most multi-vitamins) is only 300mcg. Is it possible that we would benefit from from going significantly higher than the RDA?
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  4. Valentijn

    Valentijn Activity Level: 3

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    Here's the gene for another enzyme which is needed for properly using biotin, HLCS. Colors are the same as listed above, plus yellow is 5 - 10% prevalence. No missense mutations showed up for patients or controls.

    HLCS.gif

    Not a huge difference between patients and controls, but there are 3 purples and 3 reds for patients versus 1 of each for controls. But a few of us have quite a few rare mutations, which might be having an effect.
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  5. Radio

    Radio *****

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    Wow, Great information..Thanks!
    I credit part of my full recovery to biotin supplementation. The problem could be we are not recycling biotin, kinda like the B12 MTRR polymorphisms. Also, poor gut absorption, yeast issues that can have an effect on biotin up-take...If we have problems recycling biotin and absorption/yeast issues, this could be the domino effect that creates a Functional Biotin Deficiency. The next step would be to compare OAT testing to see if there is a low biotin variations in these mutations. Also, We need to look at stool testing for yeast overgrowth the can affect biotin absorption.

    http://forums.phoenixrising.me/index.php?threads/how-i-recovered-from-cfs.27280/
    Last edited: Jan 9, 2014
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  6. nandixon

    nandixon Senior Member

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    I match up with P4 in Valentijn's first chart and I've previously tried large amounts of biotin ranging from 1-5mg and it makes me feel worse. (I don't have any skin or cutaneous issues.) A dose of 300mcg seems best for me. So I guess those P4 homozygous SNPs aren't causing any additional significant biotin need.
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  7. Valentijn

    Valentijn Activity Level: 3

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    Very useful to know, thank you!

    I'm planning to try some B7 very soon, since I do have reduced enzyme activity even if it's usually not causing people problems. I'll see what happens and report back :p
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  8. catly

    catly Senior Member

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    outside of NYC
    I'm CG for rs13078881. I just got a bottle of bioten and will start it tomorrow.
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  9. Sea

    Sea Senior Member

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    What dosage are you planning on trying Valentijn? I checked yesterday and my B Complex that I've been taking has 400mcg of Biotin.
  10. Valentijn

    Valentijn Activity Level: 3

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    The stuff I found at the local shop is 1,000mcg, so I'll be doing at least that much. And for people with a complete inability to recycle biotin, the recommended dose is 5,000 to 10,000mcg - and I shouldn't be needing that much. So between 1mg and 5mg :p
    Sea likes this.
  11. adreno

    adreno 3% neanderthal

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    I take 2-3mg daily. Any more than that and the Biotin causes acne.
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  12. Radio

    Radio *****

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    I had the same problem with acne, than i learn that lysine is needed in the biotin cycle


    [​IMG]
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  13. adreno

    adreno 3% neanderthal

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    Okay, are you saying that taking lysine allowed you to take larger doses of biotin, without getting acne? Acne seems to be a common problem with high biotin dosages. It would be worth a try.
  14. Radio

    Radio *****

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    We need to keep lysine/biotin cycle in balance when taking larger doses of biotin.
  15. Mogwai

    Mogwai

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    So a 1:1 ratio then?

    I've had to cut out milk, and eggs - so supplementing with biotin looks a prudent choice.
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  16. Radio

    Radio *****

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    Biotin/Lysine 2-4:1 ratio works for me...Also, Carnitine is synthesized from lysine :hug:
  17. Radio

    Radio *****

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    Biotin Deficiency Symptoms (Wikipedia)

    1.Dry skin
    2.Seborrheic dermatitis
    3.Fungal infections
    4.Rashes including red, patchy ones near the mouth, nose, and eyes (erythematous periorofacial macular rash)
    5.Fine and brittle hair
    6.Hair loss or total baldness (alopecia)
    7. Achromotrichia (absence or loss of pigment in the hair).

    If left untreated, neurological symptoms can develop, including:

    1.Mild depression, which may progress to profound lassitude and, eventually, to somnolence
    2.Changes in mental status
    3.Generalized muscular pains (myalgias)
    4.Hyperesthesias and paresthesias

    There are certain side effects from a biotin deficiency that some researchers refer to as "biotin-deficient facies," according to the Linus Pauling Institute. This facial side effect appears as an odd distribution of subcutaneous fat in the face. Other side effects seen on the face are a rash or rashes that appear around the eyes and the edges of the mouth and nose. The above-mentioned report from NC State University explains that the hair, skin and facial side effects of a biotin deficiency can appear as early as 3 to 5 weeks.
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  18. Valentijn

    Valentijn Activity Level: 3

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    Do you know your genetic status or actual levels without the supplementation? I'm wondering if a higher dose can be tolerated if there's definitely a specific problem with biotin.
  19. adreno

    adreno 3% neanderthal

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    I've checked a few SNPs, including rs13078881 which you mentioned, but they were all normal. I do not have any functional tests. But I do think that biotin is helping somewhat, with energy and utilization of fats. Biotin seems to help me burn fat, and if I stop taking it for a while I gain weight. The benefits don't seem to increase when I increase the dose though, but I haven't tried more than 5mg.

    I don't believe we will find an underlying biotin deficiency in the majority of ME/CFS patients. In fact, I don't believe we will find any common factor causing ME/CFS. I believe there are many ways our biochemistry can become screwed, but the endpoint symptoms seem to be relatively similar.
    Hanna and Valentijn like this.
  20. adreno

    adreno 3% neanderthal

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