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5 Written questions

5 Matching questions

  1. Acute intermittent porphyria
  2. Porphyria cutanea tarda
  3. Ehlers-Danlos syndrome
  4. Marfan syndrome
  5. Hurler syndrome
  1. a Fibrillin 1
    ↑Nonfunctiona elastin
    Limbs discrepancy
  2. b hydroxymethylbilane synthase ↑Porphobilinogen delta-aminolevulinic acid
    neurologic damage
  3. c Lysyl hydroxylase or procollagen peptidase Decrease Procollagen
    skin hyperelasticity, may cause serious vascular problems

    (-may be deficiency of one of the enzymes needed for modification of the alpha chains to the mature fibril
    -may be actual mutations in the AA sequence of the chains)
  4. d uroporphyrinogen decarboxylase ↑uroporphyrin
    increased free radical, photosensitivity
  5. e alpha-L iduronidase
    Glycosaminaglycan: Decrease Heparan Sulfate & dermatan sulfate Abnormal spine bones, claw hands and Cloudy corneas, & mental retardation

5 Multiple choice questions

  1. Prolyl hydroxylase & Lysyl Hydroxylase (Vit C)
    ↑ Tropocollagen
    With no hydroxylated residues Sore & Spongy gums
  2. defective transport protein of bilirubin ↑conjugated bilirubin diglucuronide conjugated hyperbilirubinemia
  3. Ceraminidase ↑ Ceramide
    Painful and progressive joint deformity
  4. iduronate-2-sulfatase Glycosaminaglycan: Decrease dermatan sulfate and heparan sulfate Physical deformity and mental retardation
  5. Sphingomyelinase ↑ sphingomyelin Hepatosplenomegaly; Cherry-red macula

5 True/False questions

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

          

  2. Gilbert's syndromeLysyl hydroxylase or procollagen peptidase Decrease Procollagen
    skin hyperelasticity, may cause serious vascular problems

    (-may be deficiency of one of the enzymes needed for modification of the alpha chains to the mature fibril
    -may be actual mutations in the AA sequence of the chains)

          

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

          

  4. Dubin-Johnson syndromeLysyl hydroxylase or procollagen peptidase Decrease Procollagen
    skin hyperelasticity, may cause serious vascular problems

    (-may be deficiency of one of the enzymes needed for modification of the alpha chains to the mature fibril
    -may be actual mutations in the AA sequence of the chains)

          

  5. I-cell diseaseBeta-glucocerebrosidase
    ↑ Glucocerebroside
    Hepatosplenomegaly

          

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