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Lysosomal storage disease

Quiz yourself by thinking what should be in each of the black spaces below before clicking on it to display the answer.
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Question
Answer
description
substrate accumulated
fabry's   alpha galactosidase a   (peripheral neurophathy of hands/feet, angiokeratomas, cardiovascular/renal disease)   ceramide trihexoside  
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goucher's   b clucocerebrosidase )   (hsm, aseptic necrosis of femur, bone crisis, gaucher's cells   glucocerebroside  
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niemannpick   sphingomyelinase   (progressive neurodegeneration, hsm, cherry red spot on macula   sphingomyelin  
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tay sachs disease   hexosaminidase a   (progressive neurodegeneration, developmental delay, cherry red spot, lysozomes with onion skin)   gm2 ganglioside  
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krabbe's   bgalactosidase   (peripheral neuropathy, dev't delay, optic atrophy)   galactocerebroside  
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metachromatic leukodystrophy   arylsulfatase a (   central and peripheral demyelination with ataxia, dementia   cerebroside sulfate  
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hurler's   alpha l iduronidase   (dev't delay, gargoylism, airway obstrxn, corneal clouding, hsm)   heparan sulfate, dermatan sulfate  
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hunter's   iduronate sulfatase )   (mild hurler's + aggressive behavior, no corneal clouding   heparan sulfate, dermatan sulfate  
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Created by: marcolhill
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