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5 Written questions

5 Matching questions

  1. I-cell disease
  2. Congenital disorders of glycosylation
  3. Dubin-Johnson syndrome
  4. Acute intermittent porphyria
  5. Gaucher disease
  1. a 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. b Abnormal glycosylation of N-linked oligosaccharides
    Glycoprotein degradation problem:
    ↑ Accumulation of glycoprotein fragments hepatic-intestinal disease; severe developmental delay
  3. c defective transport protein of bilirubin ↑conjugated bilirubin diglucuronide conjugated hyperbilirubinemia
  4. d hydroxymethylbilane synthase ↑Porphobilinogen delta-aminolevulinic acid
    neurologic damage
  5. e Beta-glucocerebrosidase
    ↑ Glucocerebroside
    Hepatosplenomegaly

5 Multiple choice questions

  1. bilirubin glucuronyltransferase ↑unconjugated bilirubin
    unconjugated hyperbilirubinemia
  2. Fibrillin 1
    ↑Nonfunctiona elastin
    Limbs discrepancy
  3. defective transport protein of bilirubin ↑conjugated bilirubin diglucuronide conjugated hyperbilirubinemia
  4. uroporphyrinogen decarboxylase ↑uroporphyrin
    increased free radical, photosensitivity
  5. Ceraminidase ↑ Ceramide
    Painful and progressive joint deformity

5 True/False questions

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

          

  2. Hurler syndromealpha-L iduronidase
    Glycosaminaglycan: Decrease Heparan Sulfate & dermatan sulfate Abnormal spine bones, claw hands and Cloudy corneas, & mental retardation

          

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

          

  4. ScurvyProlyl hydroxylase & Lysyl Hydroxylase (Vit C)
    ↑ Tropocollagen
    With no hydroxylated residues Sore & Spongy gums

          

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

          

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