Lysosomal Storage Diseases Flashcards Preview

USMLE High Yield Flashcards > Lysosomal Storage Diseases > Flashcards

Flashcards in Lysosomal Storage Diseases Deck (9)
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1

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


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

2

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


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

3

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


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

4

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

5

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

6

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


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

7

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


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

8

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


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

9

Pathways ==> lysosomal storage disease