NBME 19 question

[mj413121]

NBME 19 Can someone explain why decreased ceramide is not the answer?

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[The.Supinator]

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

 

[faisal 2000]

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.

 

[faisal 2000]

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,

am i right about this?

 

[faisal 2000]

.

 

[TheBoneDoctah]

am i right about this?

yes