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of 21 available terms

5 Written Questions

5 Matching Questions

  1. Marfan syndrome
  2. Ehlers-Danlos syndrome
  3. alpha 1-antitrypsin deficiency
  4. Scurvy
  5. Dubin-Johnson syndrome
  1. a Prolyl hydroxylase & Lysyl Hydroxylase (Vit C)
    ↑ Tropocollagen
    With no hydroxylated residues Sore & Spongy gums
  2. b defective transport protein of bilirubin ↑conjugated bilirubin diglucuronide conjugated hyperbilirubinemia
  3. c Fibrillin 1
    ↑Nonfunctiona elastin
    Limbs discrepancy
  4. d 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)
  5. e alpha 1-antitrypsin enzyme
    Increase protease activity (elastase) Decrease elastin
    Emphysema (Decrease elastin)

5 Multiple Choice Questions

  1. Ceraminidase ↑ Ceramide
    Painful and progressive joint deformity
  2. Abnormality in phosphorylate mannose:
    lysosomal enzymes (Acid hydrolase) Glycoprotein degradation problem:
    ↑ Accumulation of glycoprotein fragments Skeletal abnormalities; very progressively severe, usually can't survive childhood
  3. iduronate-2-sulfatase Glycosaminaglycan: Decrease dermatan sulfate and heparan sulfate Physical deformity and mental retardation
  4. Beta-Hexosaminidase A
    ↑ Gangliosides
    Cherry-red macula; neurodegeneration
  5. bilirubin glucuronyltransferase ↑unconjugated bilirubin
    unconjugated hyperbilirubinemia (severe)

5 True/False Questions

  1. Niemann-Pick diseaseBeta-Hexosaminidase A
    ↑ Gangliosides
    Cherry-red macula; neurodegeneration

          

  2. Fabry diseaseCeraminidase ↑ Ceramide
    Painful and progressive joint deformity

          

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

          

  4. Osteogenesis imperfectaalkaline phosphatase
    Decrease Type I collagen
    Kyphoscoliosis; blue sclerae

          

  5. Acute intermittent porphyriaalkaline phosphatase
    Decrease Type I collagen
    Kyphoscoliosis; blue sclerae

          

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