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of 21 available terms

5 Written Questions

5 Matching Questions

  1. Crigler-Najjar I syndrome
  2. I-cell disease
  3. Hurter syndrome
  4. Gilbert's syndrome
  5. Scurvy
  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 bilirubin glucuronyltransferase ↑unconjugated bilirubin
    unconjugated hyperbilirubinemia
  3. c bilirubin glucuronyltransferase ↑unconjugated bilirubin
    unconjugated hyperbilirubinemia
  4. d iduronate-2-sulfatase Glycosaminaglycan: Decrease dermatan sulfate and heparan sulfate Physical deformity and mental retardation
  5. e Prolyl hydroxylase & Lysyl Hydroxylase (Vit C)
    ↑ Tropocollagen
    With no hydroxylated residues Sore & Spongy gums

5 Multiple Choice Questions

  1. Sphingomyelinase ↑ sphingomyelin Hepatosplenomegaly; Cherry-red macula
  2. uroporphyrinogen decarboxylase ↑uroporphyrin
    increased free radical, photosensitivity
  3. Fibrillin 1
    ↑Nonfunctiona elastin
    Limbs discrepancy
  4. bilirubin glucuronyltransferase ↑unconjugated bilirubin
    unconjugated hyperbilirubinemia (severe)
  5. hydroxymethylbilane synthase ↑Porphobilinogen delta-aminolevulinic acid
    neurologic damage

5 True/False Questions

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

          

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

          

  3. Ehlers-Danlos 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)

          

  4. Rotor syndromedefective transport protein of bilirubin ↑conjugated bilirubin diglucuronide conjugated hyperbilirubinemia

          

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

          

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