Guest guest Posted August 3, 2004 Report Share Posted August 3, 2004 We have gotten some discouraging news about the boys and I am wondering if anyone has any similar experiences and/or knowledge to share. First of all when Dr. Shoffner diagnosed them a few years ago he recommended that they have semi annual urine organic and urine amino acids done and that a change could signify a worsening of overall disease. We faithfully have done this and about 12 months ago both started having greatly increased urine lactate levels, citric acid cycle intermediates and other things that were interpreted as indicative of fatty acid oxidation defects. Urine alanine levels became sky high as well. Now acyl carnitine levels show that both have high C3 and C4 indicating a few different fatty acid oxidation defects. In addition their Co Q levels are worse than ever. Normal is 0.5 to 1.5 and on therapy should be about 3-4. The boys are on the max dose of 20 mg/kg/day and their levels are 0.2! Their doctor tried to Call Dr. Shoffner today for help but he was not in I guess. It seems as if their mitochondria are just not able to do anything anymore...Have other children on this list developed secondary fatty acid oxidation defects after years of not having them? if so how has their course been? Zach and Sam have a complex 1 and 4 defect in OxPhos. But on fibroblast studies they did NOT have a fatty acid problem at the time of diagnosis (5 yrs ago) and they did not have abnormal acyl carnitine levels so this is new. Do other children have an inability to obtain a normal Co Q level even with this amount of Co Q per day. 20 mg/kg/day is a boat load. For 20 Kg Sam that means he is getting 100 mg every 6 hours and for 30 Kg Zach he is getting 150 mg every 6 hours.....yet their levels are dropping. How can they sustain being alive with those kind of Co Q levels? Just looking for others who may be having similar experiences... Annewww.caringbridge.org/wi/zachsam Quote Link to comment Share on other sites More sharing options...
Guest guest Posted August 3, 2004 Report Share Posted August 3, 2004 -Hello Anne I'm so sorry that you have yet another scary problem to worry about. I'm afraid I can't give you any info about the fatty acid oxidation defects. I do have a question about the Co Q10, though. Is it in MCT oil? I'm wondering if the boys are unable to absorb whatever the base is. I know that you probably have the top of the line, best stuff for them, but since they're not getting it as it is, have you thought about trying different bases IN ADDITION to what you're already giving them? Are there any potential side effects of CoQ? I can't remember if the boys have loose stools or constipation. ((((((((((ANNE))))))))) Heidi, 's Mom -- In Mito , " Anne K Juhlmann " wrote: > We have gotten some discouraging news about the boys and I am wondering if anyone has any similar experiences and/or knowledge to share. > > First of all when Dr. Shoffner diagnosed them a few years ago he recommended that they have semi annual urine organic and urine amino acids done and that a change could signify a worsening of overall disease. > > We faithfully have done this and about 12 months ago both started having greatly increased urine lactate levels, citric acid cycle intermediates and other things that were interpreted as indicative of fatty acid oxidation defects. > > Urine alanine levels became sky high as well. > > Now acyl carnitine levels show that both have high C3 and C4 indicating a few different fatty acid oxidation defects. > > In addition their Co Q levels are worse than ever. Normal is 0.5 to 1.5 and on therapy should be about 3-4. The boys are on the max dose of 20 mg/kg/day and their levels are 0.2! > > Their doctor tried to Call Dr. Shoffner today for help but he was not in I guess. > > It seems as if their mitochondria are just not able to do anything anymore...Have other children on this list developed secondary fatty acid oxidation defects after years of not having them? if so how has their course been? > > Zach and Sam have a complex 1 and 4 defect in OxPhos. But on fibroblast studies they did NOT have a fatty acid problem at the time of diagnosis (5 yrs ago) and they did not have abnormal acyl carnitine levels so this is new. > > Do other children have an inability to obtain a normal Co Q level even with this amount of Co Q per day. 20 mg/kg/day is a boat load. For 20 Kg Sam that means he is getting 100 mg every 6 hours and for 30 Kg Zach he is getting 150 mg every 6 hours.....yet their levels are dropping. How can they sustain being alive with those kind of Co Q levels? > > Just looking for others who may be having similar experiences... > > Anne > www.caringbridge.org/wi/zachsam Quote Link to comment Share on other sites More sharing options...
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