benji
Senior Member (Voting Rights)
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.
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.
