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5 Written questions

5 Matching questions

  1. Rotor syndrome
  2. Hurter syndrome
  3. Osteogenesis imperfecta
  4. Scurvy
  5. Crigler-Najjar II syndrome
  1. a defective transport protein of bilirubin ↑conjugated bilirubin diglucuronide conjugated hyperbilirubinemia
  2. b Prolyl hydroxylase & Lysyl Hydroxylase (Vit C)
    ↑ Tropocollagen
    With no hydroxylated residues Sore & Spongy gums
  3. c bilirubin glucuronyltransferase ↑unconjugated bilirubin
    unconjugated hyperbilirubinemia (severe)
  4. d alkaline phosphatase
    Decrease Type I collagen
    Kyphoscoliosis; blue sclerae
  5. e iduronate-2-sulfatase Glycosaminaglycan: Decrease dermatan sulfate and heparan sulfate Physical deformity and mental retardation

5 Multiple choice questions

  1. Beta-Hexosaminidase A
    ↑ Gangliosides
    Cherry-red macula; neurodegeneration
  2. alpha 1-antitrypsin enzyme
    Increase protease activity (elastase) Decrease elastin
    Emphysema (Decrease elastin)
  3. Sphingomyelinase ↑ sphingomyelin Hepatosplenomegaly; Cherry-red macula
  4. alpha-L iduronidase
    Glycosaminaglycan: Decrease Heparan Sulfate & dermatan sulfate Abnormal spine bones, claw hands and Cloudy corneas, & mental retardation
  5. Beta-glucocerebrosidase
    ↑ Glucocerebroside
    Hepatosplenomegaly

5 True/False questions

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

          

  2. Congenital disorders of glycosylationbilirubin glucuronyltransferase ↑unconjugated bilirubin
    unconjugated hyperbilirubinemia

          

  3. I-cell diseaseAbnormality 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. Fabry diseaseCeraminidase ↑ Ceramide
    Painful and progressive joint deformity

          

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

          

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