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Re: [Mito] Did anyone here have abnormal peroxisomal function and low levels of.. m

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  • Jack and Sue
    Hi, Anything is possible with a mito disorder!! :) My kids have a mito disorder (VERY strongly suspected), yet all the tests but the MRI are normal. Billy
    Message 1 of 2 , Jul 1, 2001
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      Hi,
      Anything is possible with a mito disorder!! :) My kids have a mito
      disorder (VERY strongly suspected), yet all the tests but the MRI are
      normal. Billy has abnormal levels of some amino acids, but none of the docs
      seem to be concerned. The one doc said it was related to his diet. Both
      the boys have had their very long chain fatty acids tested as well and those
      are normal with the exception of one ratio in one of the kids. But there
      again the docs didn't seem concerned. My one son had a skin and muscle
      biopsy that were normal. Our doc believes the boys have a varient of
      Leigh's and they just don't have a test to determine where the defect lies.
      Confusing as all hell!! :)
      To be honest, we don't even care about the label any more as it doesn't
      matter what it's called. The outcome is still the same. We just deal with
      the symptoms and be as happy as we can each day. :) Chris had been holding
      steady his whole life until about a year ago. He's gone from crawling,
      sitting and eating, to laying on his stomach and a g-tube. Billy has slowly
      regressed his whole life.
      Good luck finding answers, but don't be surprised if they are elusive.

      Sue & Jack-worn out parents to the greatest kids on earth in Las Vegas, NV-
      Chris 10 & Billy 9-Both w/Leigh's Disease (?), MR (mild), g-tube, Billy
      w/fundo, larynotracheomalacia, trach, vent 24/7. Visit us!
      http://u2.lvcm.com/jscb

      > Mitochondrial function in a urine test but the biopsy came back
      > negative? my son is progressing well. He had a urine test that said;
      > Urine organic acids- several abnormal acids is low level may be from
      > abnormal mitochondrial function (this is normal) Peroxisomal
      > function or glysosyglation of proteins. He is now having his very
      > long fatty acid chain tested and i dont know what to think . They're
      > still thinking mito after our biopsy was negative. Is that possible?
      > Specially since he is doing so well . has anyone had a similar
      > experience?
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