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5 Written questions

5 Matching questions

  1. alpha 1-antitrypsin deficiency
  2. Rotor syndrome
  3. Scurvy
  4. Porphyria cutanea tarda
  5. Hurler syndrome
  1. a defective transport protein of bilirubin ↑conjugated bilirubin diglucuronide conjugated hyperbilirubinemia
  2. b Prolyl hydroxylase & Lysyl Hydroxylase (Vit C)
    ↑ Tropocollagen
    With no hydroxylated residues Sore & Spongy gums
  3. c alpha 1-antitrypsin enzyme
    Increase protease activity (elastase) Decrease elastin
    Emphysema (Decrease elastin)
  4. d alpha-L iduronidase
    Glycosaminaglycan: Decrease Heparan Sulfate & dermatan sulfate Abnormal spine bones, claw hands and Cloudy corneas, & mental retardation
  5. e uroporphyrinogen decarboxylase ↑uroporphyrin
    increased free radical, photosensitivity

5 Multiple choice questions

  1. Beta-glucocerebrosidase
    ↑ Glucocerebroside
    Hepatosplenomegaly
  2. Sphingomyelinase ↑ sphingomyelin Hepatosplenomegaly; Cherry-red macula
  3. Fibrillin 1
    ↑Nonfunctiona elastin
    Limbs discrepancy
  4. bilirubin glucuronyltransferase ↑unconjugated bilirubin
    unconjugated hyperbilirubinemia
  5. bilirubin glucuronyltransferase ↑unconjugated bilirubin
    unconjugated hyperbilirubinemia

5 True/False questions

  1. Crigler-Najjar II syndromebilirubin glucuronyltransferase ↑unconjugated bilirubin
    unconjugated hyperbilirubinemia

          

  2. Tay-Sachs diseaseBeta-Hexosaminidase A
    ↑ Gangliosides
    Cherry-red macula; neurodegeneration

          

  3. Fabry diseaseAlpha- Galactosidase
    ↑ Globosides
    Reddish-purple skin rash; Kidney and heart failure

          

  4. Hurter syndromealpha-L iduronidase
    Glycosaminaglycan: Decrease Heparan Sulfate & dermatan sulfate Abnormal spine bones, claw hands and Cloudy corneas, & mental retardation

          

  5. Acute intermittent porphyriahydroxymethylbilane synthase ↑Porphobilinogen delta-aminolevulinic acid
    neurologic damage

          

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