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Details Title: Lysosomal Storage Disease Description: USMLE Step 1 prep Total Flash Cards: 8 Created: 06/07/2004 09:06:32	To study from this set of flash cards, or to create your own your own study flash cards, register HERE. If you are already a registered user, CLICK HERE.
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