Disorders of Metabolism & Lysosomal Storage Diseases Flashcards Preview

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

Flashcards in Disorders of Metabolism & Lysosomal Storage Diseases Deck (10)
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1

2

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

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

3

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

  • AR
  • B-glucocerebrosidase
  • glucocerebroside
  • sx
    • gaucher cells = "tissue paper" macs 
    • hepatosplenomegaly
    • developmental delay

4

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

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

5

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

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

6

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

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

7

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

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

8

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

  • AR
  • galactocerebrosidase
  • galactosylsphingosine & galactocerebroside
  • Sx
    • progressive neurodegeneration
    • optic atrophy

9

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

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

10

Pathways ==> lysosomal storage disease

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