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3 Written questions

3 Multiple choice questions

  1. 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. 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
  3. Enzyme 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

2 True/False questions

  1. Hunters Syndrome - Enzyme deficiency, Accumulated compound, CharacteristicsEnzyme Deficiency: Iduronidase
    Accumulated: Dermatan sulfate, Heparin sulfate
    Characteristics: Corneal clouding, coarse facial features, restricted joint movement, short stature, hepatosplenomegaly

          

  2. Fabry - 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

          

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