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3 Written questions

3 Multiple choice questions

  1. Enzyme Deficiency: Sphingomyelinase
    Accumulated: Sphingomyelin / sphingophospholipid
    Type A - Affects neurons, 2-3 years of age
    Type B - Affects liver/spleen, later in childhood, hepatosplenomegaly, Cherry red spot in macula, Foamy appearing cells
  2. 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
  3. Enzyme Deficiency: Iduronidase
    Accumulated: Dermatan sulfate, Heparin sulfate
    Characteristics: Corneal clouding, coarse facial features, restricted joint movement, short stature, hepatosplenomegaly

2 True/False questions

  1. Gauchers - Enzyme deficiency, Accumulated compound, CharacteristicsEnzyme Deficiency: alpha-Galactosidase
    Accumulated: Globoside / ceramide trihexoside
    Characteristics: X-linked recessive, peripheral neuropathy, tingling extremities, 'bathing suit distribution' skin rash


  2. Tay Sachs - Enzyme deficiency, Accumulated compound, CharacteristicsEnzyme Deficiency: B-glucosidase / glucocerebrosidase
    Accumulated: Glucocerebroside / glucosyl ceremide
    Characteristics: Most common LSD, Crumpled tissue paper cytoplasm, adult form most common, osteoperosis of long bones, hepatosplenomegaly


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