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5 Written questions

5 Matching questions

  1. Tay-Sachs disease
  2. Scurvy
  3. Dubin-Johnson syndrome
  4. Gilbert's syndrome
  5. Osteogenesis imperfecta
  1. a Prolyl hydroxylase & Lysyl Hydroxylase (Vit C)
    ↑ Tropocollagen
    With no hydroxylated residues Sore & Spongy gums
  2. b Beta-Hexosaminidase A
    ↑ Gangliosides
    Cherry-red macula; neurodegeneration
  3. c defective transport protein of bilirubin ↑conjugated bilirubin diglucuronide conjugated hyperbilirubinemia
  4. d alkaline phosphatase
    Decrease Type I collagen
    Kyphoscoliosis; blue sclerae
  5. e bilirubin glucuronyltransferase ↑unconjugated bilirubin
    unconjugated hyperbilirubinemia

5 Multiple choice questions

  1. bilirubin glucuronyltransferase ↑unconjugated bilirubin
    unconjugated hyperbilirubinemia (severe)
  2. 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)
  3. Fibrillin 1
    ↑Nonfunctiona elastin
    Limbs discrepancy
  4. bilirubin glucuronyltransferase ↑unconjugated bilirubin
    unconjugated hyperbilirubinemia
  5. Abnormal glycosylation of N-linked oligosaccharides
    Glycoprotein degradation problem:
    ↑ Accumulation of glycoprotein fragments hepatic-intestinal disease; severe developmental delay

5 True/False questions

  1. I-cell diseaseAlpha- Galactosidase
    ↑ Globosides
    Reddish-purple skin rash; Kidney and heart failure

          

  2. Gaucher diseaseCeraminidase ↑ Ceramide
    Painful and progressive joint deformity

          

  3. Porphyria cutanea tardaCeraminidase ↑ Ceramide
    Painful and progressive joint deformity

          

  4. Rotor syndromedefective transport protein of bilirubin ↑conjugated bilirubin diglucuronide conjugated hyperbilirubinemia

          

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

          

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