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5 Written questions

5 Matching questions

  1. Ehlers-Danlos syndrome
  2. Crigler-Najjar I syndrome
  3. Hurter syndrome
  4. I-cell disease
  5. Fabry 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 iduronate-2-sulfatase Glycosaminaglycan: Decrease dermatan sulfate and heparan sulfate Physical deformity and mental retardation
  3. c bilirubin glucuronyltransferase ↑unconjugated bilirubin
    unconjugated hyperbilirubinemia
  4. d 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)
  5. e Alpha- Galactosidase
    ↑ Globosides
    Reddish-purple skin rash; Kidney and heart failure

5 Multiple choice questions

  1. defective transport protein of bilirubin ↑conjugated bilirubin diglucuronide conjugated hyperbilirubinemia
  2. uroporphyrinogen decarboxylase ↑uroporphyrin
    increased free radical, photosensitivity
  3. Sphingomyelinase ↑ sphingomyelin Hepatosplenomegaly; Cherry-red macula
  4. alkaline phosphatase
    Decrease Type I collagen
    Kyphoscoliosis; blue sclerae
  5. alpha-L iduronidase
    Glycosaminaglycan: Decrease Heparan Sulfate & dermatan sulfate Abnormal spine bones, claw hands and Cloudy corneas, & mental retardation

5 True/False questions

  1. 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)

          

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

          

  3. Farber diseaseCeraminidase ↑ Ceramide
    Painful and progressive joint deformity

          

  4. Acute intermittent porphyriahydroxymethylbilane synthase ↑Porphobilinogen delta-aminolevulinic acid
    neurologic damage

          

  5. alpha 1-antitrypsin deficiencyAlpha- Galactosidase
    ↑ Globosides
    Reddish-purple skin rash; Kidney and heart failure

          

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