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5 Written questions

5 Matching questions

  1. I-cell disease
  2. Fabry disease
  3. Tay-Sachs disease
  4. Porphyria cutanea tarda
  5. Hurter syndrome
  1. a Alpha- Galactosidase
    ↑ Globosides
    Reddish-purple skin rash; Kidney and heart failure
  2. b uroporphyrinogen decarboxylase ↑uroporphyrin
    increased free radical, photosensitivity
  3. c Beta-Hexosaminidase A
    ↑ Gangliosides
    Cherry-red macula; neurodegeneration
  4. d 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. e iduronate-2-sulfatase Glycosaminaglycan: Decrease dermatan sulfate and heparan sulfate Physical deformity and mental retardation

5 Multiple choice questions

  1. Abnormal glycosylation of N-linked oligosaccharides
    Glycoprotein degradation problem:
    ↑ Accumulation of glycoprotein fragments hepatic-intestinal disease; severe developmental delay
  2. Ceraminidase ↑ Ceramide
    Painful and progressive joint deformity
  3. alpha 1-antitrypsin enzyme
    Increase protease activity (elastase) Decrease elastin
    Emphysema (Decrease elastin)
  4. hydroxymethylbilane synthase ↑Porphobilinogen delta-aminolevulinic acid
    neurologic damage
  5. bilirubin glucuronyltransferase ↑unconjugated bilirubin
    unconjugated hyperbilirubinemia

5 True/False questions

  1. Niemann-Pick diseaseSphingomyelinase ↑ sphingomyelin Hepatosplenomegaly; Cherry-red macula

          

  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. Scurvydefective transport protein of bilirubin ↑conjugated bilirubin diglucuronide conjugated hyperbilirubinemia

          

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

          

  5. Gaucher diseaseCeraminidase ↑ Ceramide
    Painful and progressive joint deformity