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5 Written questions

5 Matching questions

  1. Niemann-Pick disease
  2. Congenital disorders of glycosylation
  3. Crigler-Najjar II syndrome
  4. Acute intermittent porphyria
  5. Osteogenesis imperfecta
  1. a bilirubin glucuronyltransferase ↑unconjugated bilirubin
    unconjugated hyperbilirubinemia (severe)
  2. b Sphingomyelinase ↑ sphingomyelin Hepatosplenomegaly; Cherry-red macula
  3. c alkaline phosphatase
    Decrease Type I collagen
    Kyphoscoliosis; blue sclerae
  4. d hydroxymethylbilane synthase ↑Porphobilinogen delta-aminolevulinic acid
    neurologic damage
  5. e Abnormal glycosylation of N-linked oligosaccharides
    Glycoprotein degradation problem:
    ↑ Accumulation of glycoprotein fragments hepatic-intestinal disease; severe developmental delay

5 Multiple choice questions

  1. defective transport protein of bilirubin ↑conjugated bilirubin diglucuronide conjugated hyperbilirubinemia
  2. Prolyl hydroxylase & Lysyl Hydroxylase (Vit C)
    ↑ Tropocollagen
    With no hydroxylated residues Sore & Spongy gums
  3. 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)
  4. uroporphyrinogen decarboxylase ↑uroporphyrin
    increased free radical, photosensitivity
  5. bilirubin glucuronyltransferase ↑unconjugated bilirubin
    unconjugated hyperbilirubinemia

5 True/False questions

  1. alpha 1-antitrypsin deficiencyiduronate-2-sulfatase Glycosaminaglycan: Decrease dermatan sulfate and heparan sulfate Physical deformity and mental retardation

          

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

          

  3. Gilbert's syndromebilirubin glucuronyltransferase ↑unconjugated bilirubin
    unconjugated hyperbilirubinemia

          

  4. Farber diseaseCeraminidase ↑ Ceramide
    Painful and progressive joint deformity

          

  5. Dubin-Johnson syndromedefective transport protein of bilirubin ↑conjugated bilirubin diglucuronide conjugated hyperbilirubinemia