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5 Written questions

5 Matching questions

  1. Marfan syndrome
  2. Hurler syndrome
  3. Crigler-Najjar I syndrome
  4. Scurvy
  5. Farber disease
  1. a Ceraminidase ↑ Ceramide
    Painful and progressive joint deformity
  2. b bilirubin glucuronyltransferase ↑unconjugated bilirubin
    unconjugated hyperbilirubinemia
  3. c Prolyl hydroxylase & Lysyl Hydroxylase (Vit C)
    ↑ Tropocollagen
    With no hydroxylated residues Sore & Spongy gums
  4. d alpha-L iduronidase
    Glycosaminaglycan: Decrease Heparan Sulfate & dermatan sulfate Abnormal spine bones, claw hands and Cloudy corneas, & mental retardation
  5. e Fibrillin 1
    ↑Nonfunctiona elastin
    Limbs discrepancy

5 Multiple choice questions

  1. 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
  2. iduronate-2-sulfatase Glycosaminaglycan: Decrease dermatan sulfate and heparan sulfate Physical deformity and mental retardation
  3. Alpha- Galactosidase
    ↑ Globosides
    Reddish-purple skin rash; Kidney and heart failure
  4. Beta-glucocerebrosidase
    ↑ Glucocerebroside
  5. Beta-Hexosaminidase A
    ↑ Gangliosides
    Cherry-red macula; neurodegeneration

5 True/False questions

  1. Crigler-Najjar II syndromebilirubin glucuronyltransferase ↑unconjugated bilirubin
    unconjugated hyperbilirubinemia (severe)


  2. Dubin-Johnson syndromeLysyl 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. Niemann-Pick diseaseSphingomyelinase ↑ sphingomyelin Hepatosplenomegaly; Cherry-red macula


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


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