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3 Written Questions

3 Multiple Choice Questions

  1. Enzyme Deficiency: alpha-Galactosidase
    Accumulated: Globoside / ceramide trihexoside
    Characteristics: X-linked recessive, peripheral neuropathy, tingling extremities, 'bathing suit distribution' skin rash
  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: Iduronidase
    Accumulated: Dermatan sulfate, Heparin sulfate
    Characteristics: Corneal clouding, coarse facial features, restricted joint movement, short stature, hepatosplenomegaly

2 True/False Questions

  1. Niemann-Pick - Enzyme deficiency, Accumulated compound, CharacteristicsEnzyme 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. Tay Sachs - Enzyme deficiency, Accumulated compound, CharacteristicsEnzyme 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


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