NAME

Question types


Start with


Question limit

of 8 available terms

Advertisement Upgrade to remove ads
Print test

3 Written questions

3 Multiple choice questions

  1. 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. 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. Pompe's - 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

          

  2. 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

          

Create Set