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Congenital disorders of glycosylation mimick Mito

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  • kelly-ann larson
    Eur J Paediatr Neurol. 2001;5(3):127- 31. Congenital disorders of glycosylation (CDG) may be underdiagnosed when mimicking mitochondrial disease. Briones P,
    Message 1 of 4 , Jul 1 5:00 AM
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      Eur J Paediatr Neurol. 2001;5(3):127- 31.
      Congenital disorders of glycosylation (CDG) may be underdiagnosed when mimicking mitochondrial disease.
      Briones P, Vilaseca MA, García-Silva MT, Pineda M, Colomer J, Ferrer I, Artigas J, Jaeken J, Chabás A.
      Institut de Bioquímica Clinica, Barcelona, Spain. pbriones@clinic. ub.es

      Congenital disorders of glycosylation (CDG) and mitochondrial diseases are multisystem disorders with clinical characteristics that may overlap. We present four patients with CDG whose phenotypes suggested the diagnosis of a mitochondrial disease. Patients 1 and 2 are siblings with hemiplegic headache, stroke-like episodes, lactic acidaemia and history of maternal migraine; their initial clinical diagnosis was MELAS syndrome (mitochondrial encephalopathy, lactic acidosis and stroke-like episodes). Patient 3 suffers from ataxia, neuropathy, ophtalmoplegia and retinitis pigmentosa suggestive of NARP (neuropathy, ataxia, and retinitis pigmentosa) syndrome. Patient 4 presented with neurological regression mimicking Leigh disease, with ptosis, myoclonus, ataxia and brainstem and cerebellar atrophy.
      Screening for mitochondrial disease including enzyme and mtDNA investigations on muscle biopsy were performed on Patients 1, 2 and 4 with normal results. However, evidence for a glycosylation disorder was substantiated by an increased carbohydrate deficient transferrin (CDT). The isoelectric focussing pattern of serum sialotransferrin was typical of CDG type I in Patients 1, 2 and 3 and was shifted towards the less sialylated bands in case 4. A deficiency of phosphomanomutase (PMM) confirmed the diagnosis of CDG-Ia in Patients 1, 2 and 3, who are compound heterozygous for mutations R141H/T237M (Patients 1 and 2) and R141H/P113L (Patient 3). In Patient 4, PMM activity was normal, and further enzymatic and molecular studies are underway. As the search for the primary defect in mitochondrial diseases is often unsuccessful, the pool of mitochondrial patients that remain without definite diagnosis might include CDG cases. Routine screening for CDG may avoid precocious invasive investigations.

    • Meagan
      This was so true for us!  Sophie was tested for CDG 3 times before we got our mito diagnosis.  CDG fit her almost perfectly!!!! Meagan, mom to Sophia, 4,
      Message 2 of 4 , Jul 1 12:54 PM
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        This was so true for us!  Sophie was tested for CDG 3 times before we got our mito diagnosis.  CDG fit her almost perfectly!!!!

        Meagan, mom to Sophia, 4, Complex I, III, & IV deficiencies  www.caringbridge.org/ky/sophiesong
         


        --- On Tue, 7/1/08, kelly-ann larson <kalars69@...> wrote:
        From: kelly-ann larson <kalars69@...>
        Subject: [Mito] Congenital disorders of glycosylation mimick Mito
        To: undiagnosed_syndromes@yahoogroups.com, mito@yahoogroups.com
        Date: Tuesday, July 1, 2008, 8:00 AM

        Eur J Paediatr Neurol. 2001;5(3):127- 31.
        Congenital disorders of glycosylation (CDG) may be underdiagnosed when mimicking mitochondrial disease.
        Briones P, Vilaseca MA, García-Silva MT, Pineda M, Colomer J, Ferrer I, Artigas J, Jaeken J, Chabás A.
        Institut de Bioquímica Clinica, Barcelona, Spain. pbriones@clinic. ub.es

        Congenital disorders of glycosylation (CDG) and mitochondrial diseases are multisystem disorders with clinical characteristics that may overlap. We present four patients with CDG whose phenotypes suggested the diagnosis of a mitochondrial disease. Patients 1 and 2 are siblings with hemiplegic headache, stroke-like episodes, lactic acidaemia and history of maternal migraine; their initial clinical diagnosis was MELAS syndrome (mitochondrial encephalopathy, lactic acidosis and stroke-like episodes). Patient 3 suffers from ataxia, neuropathy, ophtalmoplegia and retinitis pigmentosa suggestive of NARP (neuropathy, ataxia, and retinitis pigmentosa) syndrome. Patient 4 presented with neurological regression mimicking Leigh disease, with ptosis, myoclonus, ataxia and brainstem and cerebellar atrophy.
        Screening for mitochondrial disease including enzyme and mtDNA investigations on muscle biopsy were performed on Patients 1, 2 and 4 with normal results. However, evidence for a glycosylation disorder was substantiated by an increased carbohydrate deficient transferrin (CDT). The isoelectric focussing pattern of serum sialotransferrin was typical of CDG type I in Patients 1, 2 and 3 and was shifted towards the less sialylated bands in case 4. A deficiency of phosphomanomutase (PMM) confirmed the diagnosis of CDG-Ia in Patients 1, 2 and 3, who are compound heterozygous for mutations R141H/T237M (Patients 1 and 2) and R141H/P113L (Patient 3). In Patient 4, PMM activity was normal, and further enzymatic and molecular studies are underway. As the search for the primary defect in mitochondrial diseases is often unsuccessful, the pool of mitochondrial patients that remain without definite diagnosis might include CDG cases. Routine screening for CDG may avoid precocious invasive investigations.


      • Mom2JettandJude
        KA- It was great to meet u too. I really hope you get answers on your kids symptoms. Sorry u didn t get to talk w/Shoffner. J
        Message 3 of 4 , Jul 2 11:55 AM
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          KA-
          It was great to meet u too.  I really hope you get answers on your kids' symptoms. Sorry u didn't get to talk w/Shoffner.
          J
        • kelly-ann larson
          Thanks! We ll Persevere through each of these hurdles....   just need a little nudge every so often - this afternoon Grant wanted to take a IKEA box of Legos
          Message 4 of 4 , Jul 2 3:55 PM
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            Thanks! We'll Persevere through each of these hurdles....

             

            just need a little nudge every so often - this afternoon Grant wanted to take a IKEA box of Legos up to his room, but couldn't carry it up the stairs. {just the nudge I was needing today}.

             

            Kelly-Ann


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