OXPHOS And Mito Complex Defect

[Highserotonin90]

Why am I sick when I eat rice? I read that but manganese .... there are correlations with the B1 lowering the privuato?

 

[Highserotonin90]

Monarch Initiative Explorer Possible is low in my case ?

 

[Highserotonin90]

@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
Go to:
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.

Why should the ketogenic diet help? look at this picture.

 

[Highserotonin90]

What nutrients in beef liver may have caused me nocturnal seizures and psychotic episodes? I thought it might be a suitable food for my mitochondrial dysfunction (pyruvate dehydrogenase deficiency). Probably too much folate and B12 that my body can't carry into cells? I have B12 and high serum folate ... despite having also tried the use of B2 in the past. Or can there be other negative hidden nutrients like iron and copper? Thank you!

 

[Tristan Loscha]

Why should the ketogenic diet help? look at this picture.

The picture does not tell much, they had an intervention which i posted and showed impressive results for ketogenic dieting?

 

[Highserotonin90]

I absolutely cannot use high doses of B1 because they increase NADH thus activating pyruvate kinase and inhibiting pyruvate dehydrogenase. How can I bypass this problem?

 

[Recoen]

I absolutely cannot use high doses of B1 because they increase NADH thus activating pyruvate kinase and inhibiting pyruvate dehydrogenase. How can I bypass this problem?

Do you have a paper discussing B1 increasing NADH? B1 should lower it and is a cofactors with Mg for PDH. You can also use biotin and Mn for pyruvate decarboxylase.

 

[jb116]

What? B1 specifically upregulates PDH.

 

[Tristan Loscha]

What nutrients in beef liver may have caused me nocturnal seizures and psychotic episodes? I thought it might be a suitable food for my mitochondrial dysfunction (pyruvate dehydrogenase deficiency). Probably too much folate and B12 that my body can't carry into cells? I have B12 and high serum folate ... despite having also tried the use of B2 in the past. Or can there be other negative hidden nutrients like iron and copper? Thank you!

This is a rather complex diagnosis. Did you diagnosed it yourself, based on symptoms, or was it done by physicians?

 

[Highserotonin90]

This is a rather complex diagnosis. Did you diagnosed it yourself, based on symptoms, or was it done by physicians?

I have a diagnosis from the Italian hospital but I don't have official and regular medical treatment they just advised me to do a ketogenic diet.

I've tried, but it's not a long-term path for me to take. A minimum mental or physical stressor creates a slowdown of the entire system starting from the neurological, muscular, physical and the various organs.

It seems that consuming 20-30g of fat a day helps but even this is not sustainable.

For the first time I tried calcium pyruvate and it helped me a lot. According to my studies it is a PDK inhibitor so it would favor PDH.

Calcium and magnesium are also helping me but I can never make precise plans ... every day is different.

 

[Highserotonin90]

What? B1 specifically upregulates PDH.

On paper it would seem so ... but in my case the high doses increase NADH which inhibits PDH and activates PDK.

Read image but that's not new ... almost all mitochondrial dysfunction sites write about the increase in NADH with high doses of B1.

 

[Highserotonin90]

Do you have a paper discussing B1 increasing NADH? B1 should lower it and is a cofactors with Mg for PDH. You can also use biotin and Mn for pyruvate decarboxylase.

It is not the right way to increase the entry of oxaloacetate through biotin and manganese ... from these two I have negative effects.

Regarding B1 I have copied the image below.

 

[Highserotonin90]

Where can I find liquid pyruvate?

 

[S-VV]

If your mutation is the respiratory chain,elevating PDH will not have much effect since the defect is in oxidizing NADH and FADH2.

If your mutation is in the PDH complex, pyruvate won't help. It will be turned into lactic acid.

The best inhibitor for PDK is sodium dichloroacetate. I think they still sell it on Amazon. Watch out for peripheral neuropathy with this.

 

[Tristan Loscha]

@Highserotonin90

What was your experience with ketogenic dieting like. When did you get the recommendation, how did you do it, for how long, what got better, and what got worse?

 

[Recoen]

On paper it would seem so ... but in my case the high doses increase NADH which inhibits PDH and activates PDK.

Read image but that's not new ... almost all mitochondrial dysfunction sites write about the increase in NADH with high doses of B1.

That’s an issue with your ETC not using the NADH correctly.

If you’re on a high fat diet you’re making more FADH2 which could be the issue.

 

[Highserotonin90]

If your mutation is the respiratory chain,elevating PDH will not have much effect since the defect is in oxidizing NADH and FADH2.

If your mutation is in the PDH complex, pyruvate won't help. It will be turned into lactic acid.

The best inhibitor for PDK is sodium dichloroacetate. I think they still sell it on Amazon. Watch out for peripheral neuropathy with this.

Lipoic acid should also be a PDK inhibitor ... But as the days went by it made me nauseous so I removed it. Some days it really made me live like a normal person ... I would like to try the R version without biotin.

 

[Highserotonin90]

If your mutation is the respiratory chain,elevating PDH will not have much effect since the defect is in oxidizing NADH and FADH2.

If your mutation is in the PDH complex, pyruvate won't help. It will be turned into lactic acid.

The best inhibitor for PDK is sodium dichloroacetate. I think they still sell it on Amazon. Watch out for peripheral neuropathy with this.

Regarding DCA it is too risky and I'm not sure when to use it.

 

[Highserotonin90]

That’s an issue with your ETC not using the NADH correctly.

If you’re on a high fat diet you’re making more FADH2 which could be the issue.

I have no defects in complex 1 and therefore the excess of NADH comes from the B1 which activates the PDK.

 

[Highserotonin90]

So why is pyruvate listed as a PDK inhibitor on this list? I have benefits from calcium pyruvate but in stressful situations unfortunately I return to the starting point.

I wanted to emphasize that the defect is present from birth and I have not developed it over time ... to tell the truth I have always gotten worse.