OXPHOS And Mito Complex Defect

[Highserotonin90]

I still don't know what defects I have because unfortunately I haven't done a genetic test and a biopsy yet.

I can tell you that since I was born I have had significant neurological problems due to ATP deficiency and physical ... at the moment I am making significant progress with vitamin E, Vitamin C, Vitamin A and Vitamin K2 ... unfortunately I am very confused with the dosage and every 2-3 days I experience a general slowdown in progress.


Is there a risk in blood clotting given the continuous use of E, A, K2?


I have episodes of lactic acidosis which are very disabling in addition to the loss of muscle tone, difficulty in gaining weight (muscle), decrease in muscle strength, mental fog ...

I'm much better off without starches but it's hard to be without

I think my Krebs / glycolysis cycle is too accelerated while the mitochondrial transport chain isn't ... does it make sense to inhibit Krebs with NADH in pure form and increase oxidative phosphorylation in the chain?

What do you think of succinic acid?

Thanks

 

[Highserotonin90]

I wanted to update the thread although perhaps it was better to open a dedicated one.

I have been able to better experience what is happening to me ... and I have come to the final conclusion that the biggest defect is in the complex pyruvate dehydrogenase.

Basically it's not working and probably hasn't worked in my entire life since the symptoms started as a child ... I've been in survival mode for many years without a diagnosis and treatment.

For those who know what I'm talking about ... my lactate is constantly high but I can't know if it is a deficiency of B1 (TPP), Lipoic Acid or FAD ... (E1 + E2 + E3).

I started asking for support from the hospital in Milan to do specific tests ... but I will have to wait months.

I wholeheartedly ask anyone who can help me write below how I can at least partially buffer this BIG defect.

The symptoms are similar to Leight's syndrome with convulsions, vomiting, stroke-like episodes, difficulty coordinating movement, speech, language ... ataxia.

I can't gain weight and maintain weight ...

Some help vitamin A, NADH, low fat diet,
high sugars but generally I have seizures every two days.

Thanaks

 

[LLight]

Given that you have seizures:

Dehydration treatment of epilepsy:

"This degree of fluid limitation is followed by some discomfort on the part of the patient for the first ten days, but in all cases where this initial period has been accomplished, they have maintained the restriction of fluids without difficulty and with no ill effects. It must be born in mind that: unless absolute fluid regulation is maintained, little or no results can be expected.
During the first few days of fluid limitation at this low level it is interesting to note the high output of urine in contrast to the intake. The accumulation of body fluids in excess, from former free intake of fluids, persists for about six days. Following this, there may be a drop in volume of urine passed to below the intake level; again a sharp rise above the intake point with fluctuation for several weeks may occur."

"It is of interest to note that there has never been any pathological urinary findings due to dehydration except, of course, high specific gravity."
"Bauer pointed out that of 25 infants, maintained on a ketogenic diet, he had obtained symptomatic relief on approximatively 35%. When these same infants were placed on fluid limitation and dehydration for one year, he was able to establish 100% symptomatic relief in his group."

"In a later report, he mentions that he had observed 86-88 cases, with similar results."

"We believe that the effectiveness of fasting and the ketogenic diet is due not so much to the presence of ketosis per se as to the associated dehydrating effect."

Edit: I've just seen a video by a naturopathic doctor which says that deuterium depletion (what should happen if you lower your water intake) has a powerful effect on seizures.

 

[Recoen]

I still don't know what defects I have because unfortunately I haven't done a genetic test and a biopsy yet.

I can tell you that since I was born I have had significant neurological problems due to ATP deficiency and physical ... at the moment I am making significant progress with vitamin E, Vitamin C, Vitamin A and Vitamin K2 ... unfortunately I am very confused with the dosage and every 2-3 days I experience a general slowdown in progress.


Is there a risk in blood clotting given the continuous use of E, A, K2?


I have episodes of lactic acidosis which are very disabling in addition to the loss of muscle tone, difficulty in gaining weight (muscle), decrease in muscle strength, mental fog ...

I'm much better off without starches but it's hard to be without

I think my Krebs / glycolysis cycle is too accelerated while the mitochondrial transport chain isn't ... does it make sense to inhibit Krebs with NADH in pure form and increase oxidative phosphorylation in the chain?

What do you think of succinic acid?

Thanks

Join the understanding B12 deficiency group on fb.

 

[Highserotonin90]

Join the understanding B12 deficiency group on fb.

I have no shortage and I have tried various forms ...

Does anyone help me to better interpret these images? Can PDK4 also be activated by vitamin A? and it would be negative ...

 

[LLight]

Could Deuterium be the Cause of Your Illness? | Carnivore MD

Deuterium can break our nanomotors, preventing optimal ATP production.

When deuterium enters the mitochondria in place of hydrogen, two main things happen.

1) The deuterium atoms are part of that hydrogen concentration gradient (the potential energy needed to make ATP), and are loaded into the ATP synthase complex moved across the membrane, but since deuterium is 2X the weight of hydrogen it causes the motors to malfunction [11].

Deuterium can literally break your nanomotors, and once these precious instruments break, they can’s be repaired- they must be removed from the membrane and replaced with new ones.

2) Further, excess deuterium means your mitochondria are operating in “heavy water” instead of normal, lighter water with just hydrogen. Operating in this thicker liquid reduces your body’s efficiency in ATP production.

If your car engine has thick, heavy oil, there is a lot of friction and the motor does not spin efficiently. Similarly, the nanomotors inside the mitochondria won’t spin as fast when operating in “heavy water,” which reduces their efficiency in ATP production.

Inefficient and broken nanomotors can cause metabolic dysfunction which is no fun! Early signs include fatigue, weight gain, and difficulty with concentration. Down the road a broken metabolism can lead to chronic conditions such as cancer, autoimmune, diabetes, and Alzheimer’s. Boo!​

 

[Recoen]

I have no shortage and I have tried various forms ...

Does anyone help me to better interpret these images? Can PDK4 also be activated by vitamin A? and it would be negative ...

It isn’t just about B12.

 

[Recoen]

Could Deuterium be the Cause of Your Illness? | Carnivore MD

Deuterium can break our nanomotors, preventing optimal ATP production.

When deuterium enters the mitochondria in place of hydrogen, two main things happen.

1) The deuterium atoms are part of that hydrogen concentration gradient (the potential energy needed to make ATP), and are loaded into the ATP synthase complex moved across the membrane, but since deuterium is 2X the weight of hydrogen it causes the motors to malfunction [11].

Deuterium can literally break your nanomotors, and once these precious instruments break, they can’s be repaired- they must be removed from the membrane and replaced with new ones.

2) Further, excess deuterium means your mitochondria are operating in “heavy water” instead of normal, lighter water with just hydrogen. Operating in this thicker liquid reduces your body’s efficiency in ATP production.

If your car engine has thick, heavy oil, there is a lot of friction and the motor does not spin efficiently. Similarly, the nanomotors inside the mitochondria won’t spin as fast when operating in “heavy water,” which reduces their efficiency in ATP production.

Inefficient and broken nanomotors can cause metabolic dysfunction which is no fun! Early signs include fatigue, weight gain, and difficulty with concentration. Down the road a broken metabolism can lead to chronic conditions such as cancer, autoimmune, diabetes, and Alzheimer’s. Boo!​

The deuterium theory seems to go against RP’s. Specifically, fruits seem to be high in deuterium. Their claim is fats are lower and thus better. I would consider what this means for NADH coming in at complex I and FADH2 at complex II. Especially if the goal is more ATP overall.

 

[LLight]

The deuterium theory seems to go against RP’s. Specifically, fruits seem to be high in deuterium. Their claim is fats are lower and thus better. I would consider what this means for NADH coming in at complex I and FADH2 at complex II. Especially if the goal is more ATP overall.

I don't understand the details of biochemistry of either "theories" but I believe there is some data about deuterium depleted water on cancer and metabolic diseases.

Some questions I have : should deuterium depletion be applied continuously or should we do it intermittently? The human body seems to be able to excrete deuterium, on what factors depend this process (could be increased by a high carb diet for example)?

 

[Recoen]

I don't understand the details of biochemistry of either "theories" but I believe there is some data about deuterium depleted water on cancer and metabolic diseases.

Some questions I have : should deuterium depletion be applied continuously or should we do it intermittently? The human body seems to be able to excrete deuterium, on what factors depend this process (could be increased by a high carb diet for example)?

I think focusing on in season carbs might be best. So more fruit during the summer. And more potatoes, etc in the winter. People claim cold causes D release through urine. And the extra sunlight helps get the D through the ETC in the summer. So making sure you’re exposed to the elements too.
If you follow Ling, Pollack, etc the cytoplasm, IMS, and matrix should exclude the D if structured correctly. So back to the ATP and complex I vs II question. And does in season really matter if we are trying to optimize ATP production one.

 

[LLight]

I think focusing on in season carbs might be best. So more fruit during the summer. And more potatoes, etc in the winter. People claim cold causes D release through urine. And the extra sunlight helps get the D through the ETC in the summer. So making sure you’re exposed to the elements too.
If you follow Ling, Pollack, etc the cytoplasm, IMS, and matrix should exclude the D if structured correctly. So back to the ATP and complex I vs II question. And does in season really matter if we are trying to optimize ATP production one.

Thanks, this is interesting!

 

[Highserotonin90]

Guys I still can't tolerate B1 ... I also tried the TPP form but I have the same reaction as HCL.

The following days are a disaster ... depression, water retention, hypotonia, fatigue, zero energy.

Anyone who can also help me with previous comments?

 

[Tristan Loscha]

I wanted to update the thread although perhaps it was better to open a dedicated one.

I have been able to better experience what is happening to me ... and I have come to the final conclusion that the biggest defect is in the complex pyruvate dehydrogenase.

Basically it's not working and probably hasn't worked in my entire life since the symptoms started as a child ... I've been in survival mode for many years without a diagnosis and treatment.

For those who know what I'm talking about ... my lactate is constantly high but I can't know if it is a deficiency of B1 (TPP), Lipoic Acid or FAD ... (E1 + E2 + E3).

I started asking for support from the hospital in Milan to do specific tests ... but I will have to wait months.

I wholeheartedly ask anyone who can help me write below how I can at least partially buffer this BIG defect.

The symptoms are similar to Leight's syndrome with convulsions, vomiting, stroke-like episodes, difficulty coordinating movement, speech, language ... ataxia.

I can't gain weight and maintain weight ...

Some help vitamin A, NADH, low fat diet,
high sugars but generally I have seizures every two days.

Thanaks

Ketogenic Diet?It is recommended for that type of issue iirc.And you should supplement with everything,especially Bs.

 

[Andman]

Guys I still can't tolerate B1 ... I also tried the TPP form but I have the same reaction as HCL.

The following days are a disaster ... depression, water retention, hypotonia, fatigue, zero energy.

Anyone who can also help me with previous comments?

Could be a healing crisis (gets worse before it gets better type of thing) as described by dr.lonsdale the thiamine guy. not sure if peat would agree tho

 

[Tristan Loscha]

@Highserotonin90

Did you try the ketogenic Diet?


Ketogenic diet in pyruvate dehydrogenase complex deficiency: short- and long-term outcomes


J Inherit Metab Dis. 2017; 40(2): 237–245.
Published online 2017 Jan 18. doi: 10.1007/s10545-016-0011-5
PMCID: PMC5306430
PMID: 28101805
Ketogenic diet in pyruvate dehydrogenase complex deficiency: short- and long-term outcomes
Kalliopi Sofou,

1 Maria Dahlin,2 Tove Hallböök,1 Marie Lindefeldt,2 Gerd Viggedal,1 and Niklas Darin1
Author information Article notes Copyright and License information Disclaimer
This article has been cited by other articles in PMC.
Associated Data
Supplementary Materials
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Abstract
Objectives
Our aime was to study the short- and long-term effects of ketogenic diet on the disease course and disease-related outcomes in patients with pyruvate dehydrogenase complex deficiency, the metabolic factors implicated in treatment outcomes, and potential safety and compliance issues.

Methods
Pediatric patients diagnosed with pyruvate dehydrogenase complex deficiency in Sweden and treated with ketogenic diet were evaluated. Study assessments at specific time points included developmental and neurocognitive testing, patient log books, and investigator and parental questionnaires. A systematic literature review was also performed.

Results
Nineteen patients were assessed, the majority having prenatal disease onset. Patients were treated with ketogenic diet for a median of 2.9 years. All patients alive at the time of data registration at a median age of 6 years. The treatment had a positive effect mainly in the areas of epilepsy, ataxia, sleep disturbance, speech/language development, social functioning, and frequency of hospitalizations. It was also safe—except in one patient who discontinued because of acute pancreatitis. The median plasma concentration of ketone bodies (3-hydroxybutyric acid) was 3.3 mmol/l. Poor dietary compliance was associated with relapsing ataxia and stagnation of motor and neurocognitive development. Results of neurocognitive testing are reported for 12 of 19 patients.

Conclusion
Ketogenic diet was an effective and safe treatment for the majority of patients. Treatment effect was mainly determined by disease phenotype and attainment and maintenance of ketosis.

Electronic supplementary material
The online version of this article (doi:10.1007/s10545-016-0011-5) contains supplementary material, which is available to authorized users.

 

[Highserotonin90]

@Tristan Loscha @Andman

I also took a drop of Vitamin B1 TPP this morning and had the side effects mentioned above for the second time.

Even severe joint pain.

I took Vitamin K2 MK7 400mcg afterwards and recovered a bit.

Regardless of the type of diets (high or low carbohydrates) K2 has always worked immediately on me.

Vitamins A ,, E, K, C are the only ones that help me ... probably the synergy helps in the mitochondria and the regular aerobic glycolysis by lowering the lactate.

Even ALCAR somehow conveys the substances better and helps me a lot.

ALA only at low dosages for too many interactions.

K2 should facilitate aerobic glycolysis and together with vitamin C there is an excellent synergy.

I understand that according to Londsale it is good to have the side effects ... but on me they are too disabling and I don't think I'll take it back .... let's see what they decide to do in Milan.

My suspicion is that pyruvate is downright low because I always have positive effects from pyruvate calcium.

I had tried the ketogenic diet but I can't support it because I constantly crave carbohydrates ... at most I can only consume fats during the day but in the evening I eat carbohydrates.

 

[Recoen]

Guys I still can't tolerate B1 ... I also tried the TPP form but I have the same reaction as HCL.

The following days are a disaster ... depression, water retention, hypotonia, fatigue, zero energy.

Anyone who can also help me with previous comments?

Sounds like the B1 is getting K back into the cell. Have you tried eating high K foods? Or even supplemented a small amount with the B1?
Are you taking Mg?

 

[Tristan Loscha]

@Tristan Loscha @Andman

I also took a drop of Vitamin B1 TPP this morning and had the side effects mentioned above for the second time.

Even severe joint pain.

I took Vitamin K2 MK7 400mcg afterwards and recovered a bit.

Regardless of the type of diets (high or low carbohydrates) K2 has always worked immediately on me.

Vitamins A ,, E, K, C are the only ones that help me ... probably the synergy helps in the mitochondria and the regular aerobic glycolysis by lowering the lactate.

Even ALCAR somehow conveys the substances better and helps me a lot.

ALA only at low dosages for too many interactions.

K2 should facilitate aerobic glycolysis and together with vitamin C there is an excellent synergy.

I understand that according to Londsale it is good to have the side effects ... but on me they are too disabling and I don't think I'll take it back .... let's see what they decide to do in Milan.

My suspicion is that pyruvate is downright low because I always have positive effects from pyruvate calcium.

I had tried the ketogenic diet but I can't support it because I constantly crave carbohydrates ... at most I can only consume fats during the day but in the evening I eat carbohydrates.

Man,please try harder,ketogenic Diet is a nice and sustainable Restaurant Diet,Juicy Meat,Butterfat,and a tomato-cucumber salad.Also,you should try to supplement everything at the same time,piecemeal doesnt work well,and it just can be that you are severely malnourished.What was the diet during your upbringing like?

 

[Highserotonin90]

Man,please try harder,ketogenic Diet is a nice and sustainable Restaurant Diet,Juicy Meat,Butterfat,and a tomato-cucumber salad.Also,you should try to supplement everything at the same time,piecemeal doesnt work well,and it just can be that you are severely malnourished.What was the diet during your upbringing like?

@Tristan Loscha
The problems started when I was very young but no doctor / pediatrician had noticed the seriousness ... now I am 30 years old with all the serious symptoms that I have written above.

But if my pyruvate level was low what would be the sense of doing a ketogenic diet? Wouldn't it be more appropriate to try to force glucose metabolism? restoring it is the correct term.

Calcium pyruvate helps me a lot and as I wrote above also vitamin A ... probably because it has interactions in the PDHA1 gene.

Indeed, it seems that the pyruvate dehydrogenase complex comes to life again when I consume only sugars, few short-chain fats and abundant proteins from milk, yogurt, lean white meat, egg white.

Of course staying at 20-30gr of fats per day for a 1.86cm tall and underweight person is quite controversial ... because I should eat more ... or increase the sugars above 500 grams per day to have enough calories.

Unfortunately, I hardly tolerate any supplements ... especially methyl donors.

 

[Highserotonin90]

Sounds like the B1 is getting K back into the cell. Have you tried eating high K foods? Or even supplemented a small amount with the B1?
Are you taking Mg?

@Recoen
Yes, I have always tried as much as possible to balance but I did not think that such a small dose of TPP made me feel really bad for almost 3 days.

My suspicion is that my "survival" state leads me to be sensitive to the exhaustion of other cofactors ... in particular B12 and folate that are high in serum.

It could also be a positive effect ... as described but I can't handle such symptoms. For now it has been suspended.