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5 Written questions

4 Matching questions

  1. Farber disease
  2. Niemann-Pick disease
  3. Crigler-Najjar I syndrome
  4. Dubin-Johnson syndrome
  1. a bilirubin glucuronyltransferase ↑unconjugated bilirubin
    unconjugated hyperbilirubinemia
  2. b Sphingomyelinase ↑ sphingomyelin Hepatosplenomegaly; Cherry-red macula
  3. c Ceraminidase ↑ Ceramide
    Painful and progressive joint deformity
  4. d defective transport protein of bilirubin ↑conjugated bilirubin diglucuronide conjugated hyperbilirubinemia

5 Multiple choice questions

  1. 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
  2. Abnormal glycosylation of N-linked oligosaccharides
    Glycoprotein degradation problem:
    ↑ Accumulation of glycoprotein fragments hepatic-intestinal disease; severe developmental delay
  3. Beta-Hexosaminidase A
    ↑ Gangliosides
    Cherry-red macula; neurodegeneration
  4. Beta-glucocerebrosidase
    ↑ Glucocerebroside
    Hepatosplenomegaly
  5. alpha-L iduronidase
    Glycosaminaglycan: Decrease Heparan Sulfate & dermatan sulfate Abnormal spine bones, claw hands and Cloudy corneas, & mental retardation

5 True/False questions

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

          

  2. Ehlers-Danlos 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. Acute intermittent porphyriahydroxymethylbilane synthase ↑Porphobilinogen delta-aminolevulinic acid
    neurologic damage

          

  4. Porphyria cutanea tardauroporphyrinogen decarboxylase ↑uroporphyrin
    increased free radical, photosensitivity

          

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

          

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