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3 Written questions

3 Multiple choice questions

  1. Enzyme Deficiency: mannose-6-P markers
    Accumulated: GAGs, sphingolipids, mucopolysaccharides, high lysosomal enzymes
    Characteristics: Similar to hurler, hepatomegaly, gum disorders, limited joint movement, short stature
  2. Enzyme Deficiency: Iduronidase
    Accumulated: Dermatan sulfate, Heparin sulfate
    Characteristics: Corneal clouding, coarse facial features, restricted joint movement, short stature, hepatosplenomegaly
  3. Enzyme Deficiency: B-hexamidase A
    Accumulated: Ganglioside (GM2)
    Characteristics: Progressive neurodegeneration, blindness, developmental milestone delay, datal by 2-3 years, Cherry red spot on macula, Onion shell like inclusions

2 True/False questions

  1. Pompe's - Enzyme deficiency, Accumulated compound, CharacteristicsEnzyme Deficiency: Lysosomal acid maltase / 1->4 glucosidase
    Accumulated: Glycogen in heart, muscle, kidney, liver
    Characteristics: Accumulation in...
    Cardiac muscle - MI, death
    Skeletal muscle; Myopathy
    Liver: Hepatomegaly


  2. Hunters Syndrome - Enzyme deficiency, Accumulated compound, CharacteristicsEnzyme Deficiency: Iduronic sulfatase
    Accumulated: Dermatan sulfate, Heparin Sulfate
    Characteristics: Coarse facial features, hepatosplenomegaly, mental retardation, X-linked recessive


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