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5 Written questions

5 Matching questions

  1. Crigler-Najjar I syndrome
  2. Niemann-Pick disease
  3. Gilbert's syndrome
  4. Farber disease
  5. Tay-Sachs disease
  1. a bilirubin glucuronyltransferase ↑unconjugated bilirubin
    unconjugated hyperbilirubinemia
  2. b bilirubin glucuronyltransferase ↑unconjugated bilirubin
    unconjugated hyperbilirubinemia
  3. c Beta-Hexosaminidase A
    ↑ Gangliosides
    Cherry-red macula; neurodegeneration
  4. d Ceraminidase ↑ Ceramide
    Painful and progressive joint deformity
  5. e Sphingomyelinase ↑ sphingomyelin Hepatosplenomegaly; Cherry-red macula

5 Multiple choice questions

  1. defective transport protein of bilirubin ↑conjugated bilirubin diglucuronide conjugated hyperbilirubinemia
  2. iduronate-2-sulfatase Glycosaminaglycan: Decrease dermatan sulfate and heparan sulfate Physical deformity and mental retardation
  3. bilirubin glucuronyltransferase ↑unconjugated bilirubin
    unconjugated hyperbilirubinemia (severe)
  4. 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)
  5. alpha 1-antitrypsin enzyme
    Increase protease activity (elastase) Decrease elastin
    Emphysema (Decrease elastin)

5 True/False questions

  1. Gaucher diseaseCeraminidase ↑ Ceramide
    Painful and progressive joint deformity

          

  2. Congenital disorders of glycosylationAbnormal glycosylation of N-linked oligosaccharides
    Glycoprotein degradation problem:
    ↑ Accumulation of glycoprotein fragments hepatic-intestinal disease; severe developmental delay

          

  3. I-cell diseaseBeta-glucocerebrosidase
    ↑ Glucocerebroside
    Hepatosplenomegaly

          

  4. Acute intermittent porphyriaalkaline phosphatase
    Decrease Type I collagen
    Kyphoscoliosis; blue sclerae

          

  5. Osteogenesis imperfectaalkaline phosphatase
    Decrease Type I collagen
    Kyphoscoliosis; blue sclerae