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3 Written questions

3 Multiple choice questions

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

2 True/False questions

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

          

  2. Niemann-Pick - Enzyme deficiency, Accumulated compound, CharacteristicsEnzyme Deficiency: Sphingomyelinase
    Accumulated: Sphingomyelin / sphingophospholipid
    Characteristics:
    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