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Step I NBME 19 question
Started by mj413121
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because your breaking down sphingomyelin and that results in ceramide, so your not really synthesizing ceramide, I guess this is one of those situations were you go with the best answer, b is not wrong, just not the best
what i understand is that in niemann pick there is a def of the lipid hydrolase sphingomyelinase, so increase sphingomyelin and ceramide (cuz it is the structure which made sphingomyelin). niemaan pick characterized by Foam cell, HSM, cherry red spot in macula, while Tay-Sachs disease has def of hexosaminidase A. This leads to the accumulation of GM2 gangliosides. tay-sachs characterized by Lysosomes that appear like onion skins (whorled membranes), cherry red spot in macula, no HSM. Tay-Sachs Disease is prevalent among Ashkenazi Jews.
Fabry disease (x linked) has def of α-galactosidase A (ceramide trihexosidase). This leads to an accumulation of ceramide trihexoside. Fabry disease characterized by burning sensation in hand and feet, renal disease, cardiomyopathy. Patients also have a 20-fold increased risk in stroke.
Fabry disease (x linked) has def of α-galactosidase A (ceramide trihexosidase). This leads to an accumulation of ceramide trihexoside. Fabry disease characterized by burning sensation in hand and feet, renal disease, cardiomyopathy. Patients also have a 20-fold increased risk in stroke.
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am i right about this?
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