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of 21 available terms

5 Written Questions

5 Matching Questions

  1. Acute intermittent porphyria
  2. Dubin-Johnson syndrome
  3. alpha 1-antitrypsin deficiency
  4. Crigler-Najjar II syndrome
  5. Tay-Sachs disease
  1. a bilirubin glucuronyltransferase ↑unconjugated bilirubin
    unconjugated hyperbilirubinemia (severe)
  2. b hydroxymethylbilane synthase ↑Porphobilinogen delta-aminolevulinic acid
    neurologic damage
  3. c alpha 1-antitrypsin enzyme
    Increase protease activity (elastase) Decrease elastin
    Emphysema (Decrease elastin)
  4. d Beta-Hexosaminidase A
    ↑ Gangliosides
    Cherry-red macula; neurodegeneration
  5. e defective transport protein of bilirubin ↑conjugated bilirubin diglucuronide conjugated hyperbilirubinemia

5 Multiple Choice Questions

  1. Abnormal glycosylation of N-linked oligosaccharides
    Glycoprotein degradation problem:
    ↑ Accumulation of glycoprotein fragments hepatic-intestinal disease; severe developmental delay
  2. Sphingomyelinase ↑ sphingomyelin Hepatosplenomegaly; Cherry-red macula
  3. defective transport protein of bilirubin ↑conjugated bilirubin diglucuronide conjugated hyperbilirubinemia
  4. Prolyl hydroxylase & Lysyl Hydroxylase (Vit C)
    ↑ Tropocollagen
    With no hydroxylated residues Sore & Spongy gums
  5. bilirubin glucuronyltransferase ↑unconjugated bilirubin
    unconjugated hyperbilirubinemia

5 True/False Questions

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

          

  2. Osteogenesis imperfectaalkaline phosphatase
    Decrease Type I collagen
    Kyphoscoliosis; blue sclerae

          

  3. Gaucher diseaseBeta-glucocerebrosidase
    ↑ Glucocerebroside
    Hepatosplenomegaly

          

  4. I-cell diseaseAlpha- Galactosidase
    ↑ Globosides
    Reddish-purple skin rash; Kidney and heart failure

          

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

          

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