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5 Written questions

5 Matching questions

  1. Marfan syndrome
  2. Hurler syndrome
  3. Congenital disorders of glycosylation
  4. Gaucher disease
  5. Niemann-Pick disease
  1. a Beta-glucocerebrosidase
    ↑ Glucocerebroside
    Hepatosplenomegaly
  2. b Sphingomyelinase ↑ sphingomyelin Hepatosplenomegaly; Cherry-red macula
  3. c alpha-L iduronidase
    Glycosaminaglycan: Decrease Heparan Sulfate & dermatan sulfate Abnormal spine bones, claw hands and Cloudy corneas, & mental retardation
  4. d Fibrillin 1
    ↑Nonfunctiona elastin
    Limbs discrepancy
  5. e Abnormal glycosylation of N-linked oligosaccharides
    Glycoprotein degradation problem:
    ↑ Accumulation of glycoprotein fragments hepatic-intestinal disease; severe developmental delay

5 Multiple choice questions

  1. bilirubin glucuronyltransferase ↑unconjugated bilirubin
    unconjugated hyperbilirubinemia (severe)
  2. bilirubin glucuronyltransferase ↑unconjugated bilirubin
    unconjugated hyperbilirubinemia
  3. alpha 1-antitrypsin enzyme
    Increase protease activity (elastase) Decrease elastin
    Emphysema (Decrease elastin)
  4. 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
  5. bilirubin glucuronyltransferase ↑unconjugated bilirubin
    unconjugated hyperbilirubinemia

5 True/False questions

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

          

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

          

  3. Osteogenesis imperfectaAbnormality in phosphorylate mannose:
    lysosomal enzymes (Acid hydrolase) Glycoprotein degradation problem:
    ↑ Accumulation of glycoprotein fragments Skeletal abnormalities; very progressively severe, usually can't survive childhood

          

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

          

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