Guest guest Posted April 21, 2006 Report Share Posted April 21, 2006 We will be taking my son for a metabolic work-up at Stanford in the near future. If it sheds any light on underlying mechanism I will certain post the info. Below is a response I received from a pediatrician/metabolic specialist friend of a friend, who does work on fatty acid oxidation. No answers, just more questions. But the word on apraxia and fish oil is still not common knowledge even among pediatricians who focus on fatty acid metabolism. We will have to change that. - ---------------------------------------------------------------------------- ------- Apraxia is quite a non-specific finding and see it as an occasional finding in my metabolic patients. My sense is that it is more common in the disorders of energy metabolism but this may just be an ascertainment bias. My most dramatic case is a women with a respiratory chain defect in whom this is a major problem. A high fat diet is often used in therapy for these defects but seldom is as effective as you describe in your son. Nevertheless, he should have a complete metabolic evaluation to look for known disorders if this hasn't already done. The metabolic group at Stanford is certainly qualified to do this. While I doubt you'll find something previously described, the results may point in useful direction. If you've had testing done, I'd be happy to take a look at it if you provide me copies of the reports. The clinical improvement seen in your sone with the omega fatty acid supplement is striking. Most parents witnessing a placebo effect will report an initial improvement that is not sustained. You, however, make a very compelling story for the supplement overcoming a metabolic block in your son. Such dramatic responses to supraphysiologic doses of something are most suggestive of a transport defect (as in primary carnitine deficiency, etc) or a cofactor deficiency (such as biopterin defects in PKU). Alternatively, you may be overcoming some biosynthetic block through activation of a secondary pathway. It's unlikely to be a degradative defect since one would expect worsening with excess supplementation of the non-metabolizable compound. Regardless, a good starting point would be to break down the heterogenous preparation that you are using into it's individual components and test these for bioefficacy. This would best be done in a Clinical Research Center setting or at least through a metabolic center that could follow metabolite profiles carefully through the changes. One might also be able to follow things in cultured fibroblasts but only if the process involved was expressed in these cells. And of course, you'd loose the ability to follow clinical response. Dr. Enns may also be able to facilitate some baseline metabolic studies on and off therapy as a starting point. I'm sorry I can't provide more of a specific direction, but I think it is worth your time pursuing this. Let me know if I can help further. - Quote Link to comment Share on other sites More sharing options...
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