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5 Written questions

5 Matching questions

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

5 Multiple choice questions

  1. 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. Sphingomyelinase ↑ sphingomyelin Hepatosplenomegaly; Cherry-red macula
  3. iduronate-2-sulfatase Glycosaminaglycan: Decrease dermatan sulfate and heparan sulfate Physical deformity and mental retardation
  4. bilirubin glucuronyltransferase ↑unconjugated bilirubin
    unconjugated hyperbilirubinemia (severe)
  5. defective transport protein of bilirubin ↑conjugated bilirubin diglucuronide conjugated hyperbilirubinemia

5 True/False questions

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

          

  2. Tay-Sachs diseaseBeta-Hexosaminidase A
    ↑ Gangliosides
    Cherry-red macula; neurodegeneration

          

  3. Gaucher diseaseCeraminidase ↑ Ceramide
    Painful and progressive joint deformity

          

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

          

  5. alpha 1-antitrypsin deficiencySphingomyelinase ↑ sphingomyelin Hepatosplenomegaly; Cherry-red macula