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5 Written questions

5 Matching questions

  1. Osteogenesis imperfecta
  2. Fabry disease
  3. Crigler-Najjar I syndrome
  4. Dubin-Johnson syndrome
  5. Niemann-Pick disease
  1. a alkaline phosphatase
    Decrease Type I collagen
    Kyphoscoliosis; blue sclerae
  2. b Sphingomyelinase ↑ sphingomyelin Hepatosplenomegaly; Cherry-red macula
  3. c bilirubin glucuronyltransferase ↑unconjugated bilirubin
    unconjugated hyperbilirubinemia
  4. d defective transport protein of bilirubin ↑conjugated bilirubin diglucuronide conjugated hyperbilirubinemia
  5. e Alpha- Galactosidase
    ↑ Globosides
    Reddish-purple skin rash; Kidney and heart failure

5 Multiple choice questions

  1. Beta-Hexosaminidase A
    ↑ Gangliosides
    Cherry-red macula; neurodegeneration
  2. Ceraminidase ↑ Ceramide
    Painful and progressive joint deformity
  3. alpha 1-antitrypsin enzyme
    Increase protease activity (elastase) Decrease elastin
    Emphysema (Decrease elastin)
  4. Abnormal glycosylation of N-linked oligosaccharides
    Glycoprotein degradation problem:
    ↑ Accumulation of glycoprotein fragments hepatic-intestinal disease; severe developmental delay
  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. Marfan syndromeiduronate-2-sulfatase Glycosaminaglycan: Decrease dermatan sulfate and heparan sulfate Physical deformity and mental retardation

          

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

          

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

          

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

          

  5. Gaucher diseaseBeta-glucocerebrosidase
    ↑ Glucocerebroside
    Hepatosplenomegaly

          

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