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									Glycogen Storage Disease Type II (Pompe Disease)
                                                                  Repository Reference Numbers


Disease Onset Type                                  Infantile    Infantile     Infantile      Infantile          Infantile         Infantile      Infantile
Cell Type:       Lymphoblast:                                                                                                                    GM13963
                   Fibroblast (finite, primary):   GM00248      GM00338      GM00244       GM03329           GM12932            GM04912
Donor Age at Time of Specimen Sampling                5 mo        1 mo           5 mo            2 yr             9 mo              4 mo            5 mo
Donor Race                                            Black       Black        Hispanic         Black             Black             Black         Caucasian
Donor Ethnicity, If Known                                                      Mexican                                                            Pakistani
Family Number                                                                                                      1546
Family Members Available in Repository                                                                       GM12930, GM12931
Age of onset, if known
Donor Date of Death, If Known                                                                                      9 mo              6 mo
Mutated Gene, If Known                                 GAA         GAA           GAA             GAA               GAA               GAA             GAA
Mutation                                           R854X/R854X R854X/R854X   R854X/M318T   M519V/IVS8+1G>A   IVS8+1G>A/W481R    delT1441/W746X   E521K/E521K
Growth and Development:
abdominal cyst
amenorrhea
areflexia                                                                                                                              +
cardiomegaly                                                         +                                               +                 +
cardiomyopathy                                                                                                                                        +
failure to thrive                                                                                                                                     +
fasciculations
fatigue
gastrointestinal problems
growth delay
head lag
hepatomegaly                                                         +                                                                 +
hypotonia                                                                                         +                                    +              +
intolerance to greasy foods
morning headaches
motor development delay
muscle cramps
progressive muscle weakness
progressive muscle weakness of the lower limbs
protrusion of tongue                                                                                                                   +
respiratory insufficiency                                            +                                                                 +
Biochemical:
deficient acid-alpha-1,4-glucosidase                     +           +             +               +                 +                 +              +
       percentage of normal activity, if known        0.27%       0.20%         0.16%           0.35%                               0.21%            1%
crossreacting material (CRM)                         negative    negative      negative         2-3%                               negative
abnormal liver function tests                                                                                                                         +
Inheritance:
positive family history                                              +                                                                                +
parental consanguinity                                                                                                                                +
                                                                           Late        Late
                                                                         Childhood   Childhood
    Infantile       Infantile   Infantile   Infantile     Infantile       Onset?       Onset       Adult Onset         Adult Onset          Adult Onset
GM09282                                                                  GM13138 GM13450                          GM01464              GM06314
                   GM11603 GM11706 GM11849              GM13352                                  GM00443
       10 mo          5 mo        5 mo        7 mo          7 mo           15 yr        8 yr          30 yr              46 yr                  40 yr
     Caucasian      Blk/Cauc                Caucasian   Asiatic Indian     Asian     Caucasian                         Caucasian             Caucasian
Puerto rican                                                              Filipino                                                             Italian
        2135                                                                                                              173
GM09283, GM09284                                                                                                    GM01568, GM01778
                                                                                                    3rd decade                                 35 yr

                                                                                                       GAA                 GAA                  GAA
                                                                                                   IVS1-13T>G/?   IVS1-13T>G/?         IVS1-13T>G/IVS10+1G>C




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     7-10%            <2%                                    0%             1%          7%           9-26%                2-3%                 1-2%
                                                                                                     positive



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   Adult Onset       Adult Onset   Adult Onset   Adult Onset
                                   GM13331       GM13527
GM11661              GM01935
      38 yr             30 yr        48 yr          50 yr
    Caucasian           Black      Caucasian      Caucasian

      1429

                        30 yr

       GAA               GAA
IVS13-1T>G/delEx18   R854X/D645E

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                        1-3%

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