Guest guest Posted September 24, 2008 Report Share Posted September 24, 2008 Hi : Thank you for your kind words. I have to say without following your previous messages, I don't know how old your child is, diagnosis, or other lab work that you have done. So I am going to just provide you with a couple of links to read through. My son's carnitine level was low normal so not terribly deficient like some children. He was put on L-Carnitine, and then I found a geneticist that specializes in metabolic disorders to help me further with getting other labs that my pediatrician wouldn't run. Landon doesn't have any " known " metabolic disorders. He was diagnosed with verbal apraxia, and mild sensory integration dysfunction at age 2yrs. His lab work at 4 1/2yrs came back normal...which is a wonderful thing, because sometimes labs can be all over the place for (sometimes) unknown reasons. There is a folder in the link section for recommended labs, and I believe just posted a list of labs to be run. I hope these links are informative and don't confuse you more. My best advice would be if your child has a Carnitine deficiency to see a metabolic specialist to help you further. HTH, Tina Answers: What is Carnitine http://ods.od.nih.gov/factsheets/carnitine.asp http://www.mda.org/publications/Quest/q61coq10.html CARNITINE AND coQ10: Miracle Cures or Money Down the Drain? by Sharon Hesterlee Both links mention mitochondria so this might help if you aren't familiar with the term. What Are Mitochondria? Mitochondria are small complex structures which exist in every cell of the body (except red blood cells). The Mitochondrion has been called the 'powerhouse' of the cell. (I have read that it is sometimes compared to the energy company that provides electricity to your house-thought that was interesting.) > > Hiya Tina, I'm so very sorry about the loss of your husband. How > devastating, my heart goes out to you and your boys. > > I'm very interested in picking your brain about carnatine deficiency, > if I may ask you a few questions. Let me know and I'll post. > > Thanks and take good care, > Quote Link to comment Share on other sites More sharing options...
Guest guest Posted September 25, 2008 Report Share Posted September 25, 2008 Thanks Tina, your note and the links are really helpful. I'll pursue a little more complete testing from the new DAN doc that I'm seeing. Very best to you and your family, Mom to Evoni (20 mos),global apraxia, hypotonia, SPD; and Jack (5 mos), developing typically. > > > > Hiya Tina, I'm so very sorry about the loss of your husband. How > > devastating, my heart goes out to you and your boys. > > > > I'm very interested in picking your brain about carnatine > deficiency, > > if I may ask you a few questions. Let me know and I'll post. > > > > Thanks and take good care, > > > Quote Link to comment Share on other sites More sharing options...
Guest guest Posted September 25, 2008 Report Share Posted September 25, 2008 as you know if your child is carnitine deficient that is to be taken serious and overseen by a medical doctor that specializes in metabolic disorders. Is your dan a metabolic specialist? (Not all are MDs) It's best to see a specialist that is also a geneticist. As a start here's a list of metabolic specialists http://www.simd.org/Membership/publicListNames.asp?mode=geo I know not as many geneticists that are metabolic specialists (if you check the archives a few names are provided) http://checksutterfirst.org/children/services/metabolic.cfm And since the above link shares about phenylketonuria/PKU: Here's one study from 2007 on fish oil's affect on motor skills for those with PKU J Pediatr. 2007 May;150(5):479-84. Effect of fish oil supplementation on Fatty Acid status, coordination, and fine motor skills in children with phenylketonuria. Beblo S, Reinhardt H, Demmelmair H, Muntau AC, Koletzko B. Division of Metabolic Diseases and Nutrition, Dr. von Haunersches Kinderspital, Ludwig-Maximilians-University, Munich, Germany. OBJECTIVE: To investigate effects of long-chain omega-3 polyunsaturated fatty acids (LC-PUFA) on motor skills in patients with phenylketonuria (PKU). STUDY DESIGN: Thirty-six patients with PKU (1-11 years of age, good metabolic control: plasma phenylalanine </=360 mumol/L for >/=6 months). We determined plasma phospholipid fatty acids, and in patients >4 years of age (N = 24) the motometric Rostock-Oseretzky Scale (ROS), before and after supplementation with fish oil for 3 months (15 mg docosahexaenoic acid [DHA]/kg body weight daily). ROS was also assessd in 22 age-matched controls. RESULTS: Patients had low n-3 LC-PUFA in plasma phospholipids (DHA, 2.37 +/- 0.10%; eicosapentaenoic acid [EPA], 0.4 +/- 0.03%) and poorer ROS performance than controls (motor development index [MQ] 107 +/- 3 vs 117 +/- 3, P = .010). Supplementation increased phospholipid n-3 LC-PUFA (DHA 7.05 +/- 0.24%; EPA 3.31 +/- 0.19%; P < .001), decreased n-6 LC-PUFA (arachidonic acid, 9.26 +/- 0.23% vs 6.76 +/- 0.16%; P < .001) and improved ROS (MQ 115 +/- 3.54, P = .011, paired t test). ROS was unchanged in 11 retested controls (MQ 115 +/- 5.16, P = NS, paired t test multivariate analysis of variance [MANOVA] for time by group, P = ..027). Patients tolerated fish oil well. Plasma phenylalanine remained unchanged. CONCLUSION: In patients with PKU, fish oil supplementation enhances n-3 LC-PUFA levels and improves motor skills. ~~~~~~~and before anyone gets nervous about PKU (it's rare!) http://www.rarediseases.org/search/rdbdetail_abstract.html?disname=Phenylketonur\ ia ===== Quote Link to comment Share on other sites More sharing options...
Guest guest Posted September 25, 2008 Report Share Posted September 25, 2008 , this info is so valuable to me. I don't (YET) have a genetic, or metabolic, or other specialist and am totally flying by the seat of my pants. I'm trying to supply the doc with as much info as I can get my hands on, it's crazy. The DAN doc I just started seeing is a family practice guy and truly wonderful -- but not at all familiar with some of the particular gut or malabsorption complexities of this disorder. Evoni's carnatine levels from blood test came in ok, according to doc, but I am not ready to close that door, I want to ask him to look at it all different ways. I'll have a look at the links you sent over. Thanks > > as you know if your child is carnitine deficient that is to be > taken serious and overseen by a medical doctor that specializes in > metabolic disorders. Is your dan a metabolic specialist? (Not all > are MDs) > It's best to see a specialist that is also a geneticist. > > As a start here's a list of metabolic specialists > http://www.simd.org/Membership/publicListNames.asp?mode=geo > > I know not as many geneticists that are metabolic specialists > (if you check the archives a few names are provided) > http://checksutterfirst.org/children/services/metabolic.cfm > > And since the above link shares about phenylketonuria/PKU: > Here's one study from 2007 on fish oil's affect on motor skills for those with PKU > > J Pediatr. 2007 May;150(5):479-84. > Effect of fish oil supplementation on Fatty Acid status, coordination, and fine motor skills in children with phenylketonuria. > > Beblo S, Reinhardt H, Demmelmair H, Muntau AC, Koletzko B. > Division of Metabolic Diseases and Nutrition, Dr. von Haunersches Kinderspital, Ludwig-Maximilians-University, Munich, Germany. > > OBJECTIVE: To investigate effects of long-chain omega-3 polyunsaturated fatty acids (LC-PUFA) on motor skills in patients with phenylketonuria (PKU). > > STUDY DESIGN: Thirty-six patients with PKU (1-11 years of age, good metabolic control: plasma phenylalanine </=360 mumol/L for >/=6 months). We determined plasma phospholipid fatty acids, and in patients >4 years of age (N = 24) the motometric Rostock-Oseretzky Scale (ROS), before and after supplementation with fish oil for 3 months (15 mg docosahexaenoic acid [DHA]/kg body weight daily). ROS was also assessd in 22 age-matched controls. > > RESULTS: Patients had low n-3 LC-PUFA in plasma phospholipids (DHA, 2.37 +/- 0.10%; eicosapentaenoic acid [EPA], 0.4 +/- 0.03%) and poorer ROS performance than controls (motor development index [MQ] 107 +/- 3 vs 117 +/- 3, P = .010). Supplementation increased phospholipid n-3 LC-PUFA (DHA 7.05 +/- 0.24%; EPA 3.31 +/- 0.19%; P < .001), decreased n-6 LC-PUFA (arachidonic acid, 9.26 +/- 0.23% vs 6.76 +/- 0.16%; P < ..001) and improved ROS (MQ 115 +/- 3.54, P = .011, paired t test). ROS was unchanged in 11 retested controls (MQ 115 +/- 5.16, P = NS, paired t test multivariate analysis of variance [MANOVA] for time by group, P = .027). Patients tolerated fish oil well. Plasma phenylalanine remained unchanged. > > CONCLUSION: In patients with PKU, fish oil supplementation enhances n-3 LC-PUFA levels and improves motor skills. > > ~~~~~~~and before anyone gets nervous about PKU (it's rare!) > http://www.rarediseases.org/search/rdbdetail_abstract.html?disname=Phenylketonur\ ia > > > ===== > Quote Link to comment Share on other sites More sharing options...
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