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Clinical overview: Pyruvate dehydrogenase (PDH) deficiency, 2019, Pedersen et al

Discussion in 'Vitamin B12, D and other deficiencies' started by benji, Jul 7, 2020.

  1. benji

    benji Senior Member (Voting Rights)

    Messages:
    162
    I read an interesting article in the Medical Association Magazine in Norway, google translate:

    https://translate.google.com/translate?sl=no&tl=en&u=https://tidsskriftet.no/2019/10/klinisk-oversikt/pyruvatdehydrogenasemangel

    Conclusion:
    PDH deficiency is a rare metabolic disease that causes cellular energy failure. Central nervous system cells are particularly at risk, which gives a wide range of neurological symptoms. In patients with PDH deficiency, treatment with ketogenic diet and high doses of thiamine should be attempted, but it is uncertain how strict the dietary treatment should be and what is the optimal dose of thiamine. Our clinical experience is that patients with milder forms of PDH deficiency have a good effect of following a strict ketogenic diet, and this is necessary to avoid acute exacerbation of symptoms. Early diagnosis and prompt treatment appear to be important to ensure the best possible psychomotor development. Patients should be closely monitored by a multidisciplinary team with experience in metabolic diseases and dietary therapy.

    Also:
    Findings of elevated lactate and pyruvate concentrations in blood and cerebrospinal fluid often arouse the first suspicion of PDH deficiency. Lactate and pyruvate are simultaneously determined in plasma, and most preferably in cerebrospinal fluid. Hyperlactidaemia (lactate> 5 mmol / l) with simultaneously low or normal lactate-pyruvate ratio is a very strong indication of PDH deficiency.

    I think the whole thing is very interesting.
     
    leokitten, merylg, MEMarge and 8 others like this.
  2. wastwater

    wastwater Senior Member (Voting Rights)

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    268
    Pyruvate in general has been mentioned before in M.E
    Fluge and mella
    Ron Davis pyruvate normalises blood and so does copaxone
    And dr bhupesh prusty mentions PDP1
    It raised my interest as I likely have a deficiency at PDP2 and something happening with a-ketogluterate in urine glutamate and ammonia
    https://ghr.nlm.nih.gov/gene/PDP1
     
    Last edited: Jul 14, 2020
    merylg, andypants, benji and 3 others like this.
  3. benji

    benji Senior Member (Voting Rights)

    Messages:
    162
    I have had good improvement of the ketogenic diet, so that is part of reason I find it interesting.
    I will start on the road to see if I have it, beginning with to measure laktat, pyruvat and alanin in the blood.
     
    wastwater likes this.
  4. benji

    benji Senior Member (Voting Rights)

    Messages:
    162
    Yes? Sounds a bit strange. Does anybody know more?

    Anyway, about blood tests, measuring lactate and alanine can’t be done in every doctors office. I had to go to the one place in the capital of Norway that did it, and even them had to do preparations, and also having a second person to take the blood samples quickly onwards. I just came back home from that.
     
    Last edited: Jul 13, 2020
    wastwater likes this.
  5. wastwater

    wastwater Senior Member (Voting Rights)

    Messages:
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    benji likes this.
  6. benji

    benji Senior Member (Voting Rights)

    Messages:
    162
    Wastwater, interesting :thumbup:

    Still no answer to my blood-tests. They’re certainly taking their time.
     

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