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USMLE Step 1 > Disorders of Metabolism & Lysosomal Storage Diseases > Flashcards

Disorders of Metabolism & Lysosomal Storage Diseases Flashcards

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USMLE® Step 1 flashcards
1
Q
A
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2
Q

Fabry disease: inheritance, deficient enzyme, accumulated metabolite, presentation

A
  • X-linked
  • alpha-galactosidase
  • ceramide trihexoside
  • sx
    • angiokeratomas
    • cardiac and renal involvement
    • painful neuropathy
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3
Q

Gaucher disease: inheritance, deficient enzyme, accumulated metabolite, presentation

A
  • AR
  • B-glucocerebrosidase
  • glucocerebroside
  • sx
    • gaucher cells = “tissue paper” macs
    • hepatosplenomegaly
    • developmental delay
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4
Q

Hurler syndrome: inheritance, deficient enzyme, accumulated metabolite, presentation

A
  • AR
  • a-L-iduronidase
  • dermatan & heparan sulfate
  • Sx
    • gargoylism
    • corneal clouding
    • hepatosplenomegaly
    • devolpmental delay
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5
Q

Hunter syndrome: inheritance, deficient enzyme, accumulated metabolite, presentation

A
  • X-linked recessive
  • iduronidate sulfatase
  • dermatan & heparan sulfate
  • Sx
    • milder hurler syndrome
    • gargoylism
    • NO corneal clouding
    • hepatosplenomegaly
    • devolpmental delay
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6
Q

Niemann-Pick Disease: inheritance, deficient enzyme, accumulated metabolite, presentation

A
  • AR
  • sphingomyelinase
  • sphingomyelin
  • sx
    • hepatosplenomegaly
    • cherry-red macula spot
    • foam cells (lipid-laden macs)
    • progressive neurodegeneration
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7
Q

Tay-Sachs Disease: inheritance, deficient enzyme, accumulated metabolite, presentation

A
  • AR
  • B-hexosaminidase A
  • GM2 ganglioside
  • sx
    • NO hepatosplenomegaly
    • cherry-red macula spot
    • progressive neurodegeneration
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8
Q

Krabbe Disease: inheritance, deficient enzyme, accumulated metabolite, presentation

A
  • AR
  • galactocerebrosidase
  • galactosylsphingosine & galactocerebroside
  • Sx
    • progressive neurodegeneration
    • optic atrophy
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9
Q

Metachromic leukodystrophy: inheritance, deficient enzyme, accumulated metabolite, presentation

A
  • AR
  • arylsulfatase A
  • cerebroside sulfate
  • sx
    • muscle wasting
    • dementia
    • ataxia
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10
Q

Pathways ==> lysosomal storage disease

A
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USMLE Step 1 (97 decks)

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