Shared Flashcard Set

Details

Lysosomal Storage Disease
USMLE Step 1 prep
8
Medical
Not Applicable
06/07/2004

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Cards

Term
Fabry's Disease
Definition
X-linked recessive; deficiency of a-Galactosidase A -> accumulation of Ceramide Trihexoside -> Renal Failure
Term
Krabbe's Disease
Definition
AR; absence of b-Galactosidase -> accumulation of Galactocerebroside in the Brain -> Optic atrophy, Spasticity, Early Death
Term
Gaucher's Disease
Definition
AR; deficiency of b-Glucocerebrosidase -> Glucocerebroside accumulation in Brain, Liver, Spleen, BM -> usually normal lifespan; Ass'd w/ Ashkenazic Jews
Term
Neimmann-Pick Disease
Definition
AR; deficiency of Sphingomyelinase -> accumulation of Sphingomyelin and Cholesterol in RE and Parenchymal cells/tissues -> Early Death; "don't PICK your nose with your SPHINGer"
Term
Tay-Sachs Disease
Definition
AR; absence of Hexosaminidase A -> GM2 Ganglioside accumulation, cherry-red spots on macula -> Early Death; ass'd w/ Ashkenazic Jews; "Tay-saX lacks heXosaminidase"
Term
Metachromatic Leukodystrophy
Definition
AR; deficiency of Arylsulfatase A -> accumulation of Sulfatide in Brain, Kidney, Liver, Peripheral Nerves
Term
Hurler's Syndrome
Definition
AR; deficiency of a-L-Iduronidase -> Corneal clouding, Mental retardation
Term
Hunter's Syndrome
Definition
X-linked recessive ("Hunters aim for the X); deficiency of Iduronate Sulfatase -> mild mental retardation, no corneal clouding
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