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5 Written questions

5 Matching questions

  1. Congenital disorders of glycosylation
  2. I-cell disease
  3. Gilbert's syndrome
  4. Ehlers-Danlos syndrome
  5. Dubin-Johnson syndrome
  1. a 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)
  2. b 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
  3. c bilirubin glucuronyltransferase ↑unconjugated bilirubin
    unconjugated hyperbilirubinemia
  4. d Abnormal glycosylation of N-linked oligosaccharides
    Glycoprotein degradation problem:
    ↑ Accumulation of glycoprotein fragments hepatic-intestinal disease; severe developmental delay
  5. e defective transport protein of bilirubin ↑conjugated bilirubin diglucuronide conjugated hyperbilirubinemia

5 Multiple choice questions

  1. uroporphyrinogen decarboxylase ↑uroporphyrin
    increased free radical, photosensitivity
  2. Sphingomyelinase ↑ sphingomyelin Hepatosplenomegaly; Cherry-red macula
  3. alkaline phosphatase
    Decrease Type I collagen
    Kyphoscoliosis; blue sclerae
  4. Alpha- Galactosidase
    ↑ Globosides
    Reddish-purple skin rash; Kidney and heart failure
  5. Ceraminidase ↑ Ceramide
    Painful and progressive joint deformity

5 True/False questions

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

          

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

          

  3. Gaucher diseaseCeraminidase ↑ Ceramide
    Painful and progressive joint deformity

          

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

          

  5. Crigler-Najjar II syndromebilirubin glucuronyltransferase ↑unconjugated bilirubin
    unconjugated hyperbilirubinemia