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5 Written questions

5 Matching questions

  1. Gaucher disease
  2. Acute intermittent porphyria
  3. Ehlers-Danlos syndrome
  4. Osteogenesis imperfecta
  5. Crigler-Najjar II syndrome
  1. a 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)
  2. b hydroxymethylbilane synthase ↑Porphobilinogen delta-aminolevulinic acid
    neurologic damage
  3. c bilirubin glucuronyltransferase ↑unconjugated bilirubin
    unconjugated hyperbilirubinemia (severe)
  4. d Beta-glucocerebrosidase
    ↑ Glucocerebroside
    Hepatosplenomegaly
  5. e alkaline phosphatase
    Decrease Type I collagen
    Kyphoscoliosis; blue sclerae

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. defective transport protein of bilirubin ↑conjugated bilirubin diglucuronide conjugated hyperbilirubinemia
  3. bilirubin glucuronyltransferase ↑unconjugated bilirubin
    unconjugated hyperbilirubinemia
  4. uroporphyrinogen decarboxylase ↑uroporphyrin
    increased free radical, photosensitivity
  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. I-cell diseaseAlpha- Galactosidase
    ↑ Globosides
    Reddish-purple skin rash; Kidney and heart failure

          

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

          

  3. Crigler-Najjar I syndromebilirubin glucuronyltransferase ↑unconjugated bilirubin
    unconjugated hyperbilirubinemia (severe)

          

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

          

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