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comlex 2 > lysosomal storage disease > Flashcards

lysosomal storage disease Flashcards

1
Q

gaucher’s dz

A
  • glucocerebrosidase deficiency
  • AR
  • pancytopenia, HSM, diffuse infiltrative pulmonary dz
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2
Q

fabry dz

A
  • XR
  • alpha galactosidase A deficiency
  • pain, proteinuria, HTN, angiokeratomas, corneal verticillata
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3
Q

krabb dz

A
  • AR
  • galactocerebrosidase deficiency
  • degeneration of myelin sheath
  • fever, limb stiffness, seizures, mental and motor dvlpmntl deficiency
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4
Q

neimann-pick dz

A
  • AR
  • sphingomyelinase deficiency
  • HSM, pain, abd distension, ataxia, dysarthria, dystonia, dementia, seizures
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5
Q

tay-sachs dz

A
  • AR
  • hexosaminidase defiency
  • blind, deaf, die young
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comlex 2 (13 decks)

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