Lysosomal storage diseases Flashcards

1
Q

Fabry Disease

1) inheritance
2) deficient enzyme
3) accumulated metabolite
4) s/s

A

1) x-linked recessive
2) alpha-galactosidase
3) ceramide trihexoside
4) angiokeratomas, heart/kidneys/nerves (painful neuropathy)

  • skin, heart, kidneys, nerves
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2
Q

Gaucher disease

  1. inheritance
  2. def enzyme
  3. accum metabolite
  4. s/s
A
  1. AR
  2. beta-glucocerebrosidase
  3. glucocerebroside
  4. HSM, pancytopenia, severe bone and joint pain
    gaucher cells (macrophages that look like crumped tissue paper)
  • liver/spleen, BM, bone/joints
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3
Q

Hurler syndrome

  1. inheritance
  2. def enzyme
  3. accum metabolite
  4. s/s
A
  1. AR
  2. alpha-L-iduronidase
  3. dermatan and heparan sulfate
  4. HSM, deve’t delay, gargoylism, corneal clouding, airway obstruction
  • liver/spleen, brain, face, eyes, lungs
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4
Q

Hunter syndrome

  1. inheritance
  2. def enzyme
  3. accum metabolite
  4. s/s
A
  1. X-linked recessive
  2. iduronate sulfatase
  3. dermatan and herparan sulfate
  4. same as Hurler but more aggressive and no corneal clouding
  • liver/spleen, brain, face
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5
Q

Niemann-Pick disease

  1. inheritance
  2. def enzyme
  3. accum metabolite
  4. s/s
A
  1. AR
  2. spingomyelinase
  3. sphingomyelin
  4. HSM, cherry-red macula spot, progressive neurodegen, foam cells
  • liver/spleen, macula, brain
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6
Q

Tay Sachs

  1. inheritance
  2. def enzyme
  3. accum metabolite
  4. s/s
A
  1. AR
  2. beta-hexoaminidase A
  3. GM2 and ganglioside
  4. cherry-red macula spot, progressive neurodeg
  • macula, brain
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7
Q

Krabbe disease

  1. inheritance
  2. def enzyme
  3. accum metabolite
  4. s/s
A
  1. AR
  2. galactocerebrosidase
  3. galactosyl-sphingosine and galactocerebroside
  4. progressive neurodeg and optic atrophy

brain and eyes

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8
Q

Metachromatic leukodystrophy

  1. inheritance
  2. def enzyme
  3. accum metabolite
  4. s/s
A
  1. ,AR
  2. arylsulfatase A
  3. cerebroside sulfate
  4. muscle wasting, dementia, ataxia

muscle brain

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9
Q

Sphingolipidoses (6)

A
  1. Tay Sachs
  2. Fabry
  3. Gaucher
  4. Niemann Pick
  5. Krabbe
  6. Metachromic leukodystrophy
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10
Q

Mucopolysaccharidoses (2)

A

hurler

hunter

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