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5 Written questions

5 Matching questions

  1. Crigler-Najjar II syndrome
  2. Gilbert's syndrome
  3. Hurter syndrome
  4. Rotor syndrome
  5. Tay-Sachs disease
  1. a bilirubin glucuronyltransferase ↑unconjugated bilirubin
    unconjugated hyperbilirubinemia (severe)
  2. b iduronate-2-sulfatase Glycosaminaglycan: Decrease dermatan sulfate and heparan sulfate Physical deformity and mental retardation
  3. c defective transport protein of bilirubin ↑conjugated bilirubin diglucuronide conjugated hyperbilirubinemia
  4. d bilirubin glucuronyltransferase ↑unconjugated bilirubin
    unconjugated hyperbilirubinemia
  5. e Beta-Hexosaminidase A
    ↑ Gangliosides
    Cherry-red macula; neurodegeneration

5 Multiple choice questions

  1. Sphingomyelinase ↑ sphingomyelin Hepatosplenomegaly; Cherry-red macula
  2. uroporphyrinogen decarboxylase ↑uroporphyrin
    increased free radical, photosensitivity
  3. alpha-L iduronidase
    Glycosaminaglycan: Decrease Heparan Sulfate & dermatan sulfate Abnormal spine bones, claw hands and Cloudy corneas, & mental retardation
  4. hydroxymethylbilane synthase ↑Porphobilinogen delta-aminolevulinic acid
    neurologic damage
  5. Prolyl hydroxylase & Lysyl Hydroxylase (Vit C)
    ↑ Tropocollagen
    With no hydroxylated residues Sore & Spongy gums

5 True/False questions

  1. Fabry diseaseCeraminidase ↑ Ceramide
    Painful and progressive joint deformity

          

  2. Farber diseaseAlpha- Galactosidase
    ↑ Globosides
    Reddish-purple skin rash; Kidney and heart failure

          

  3. Crigler-Najjar I syndromebilirubin glucuronyltransferase ↑unconjugated bilirubin
    unconjugated hyperbilirubinemia

          

  4. Marfan syndromeiduronate-2-sulfatase Glycosaminaglycan: Decrease dermatan sulfate and heparan sulfate Physical deformity and mental retardation

          

  5. Dubin-Johnson syndromedefective transport protein of bilirubin ↑conjugated bilirubin diglucuronide conjugated hyperbilirubinemia

          

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