Lysosomal storage disorders: practice question

The best answer is A, Glucocerebroside. This is Gaucher disease, caused by deficiency of glucocerebrosidase, so glucosylceramide accumulates in macrophages.

Sphingomyelin accumulates in Niemann-Pick disease, with foamy macrophages.

Galactocerebroside accumulates in Krabbe disease, with demyelination and globoid cells.

GM2 ganglioside accumulates in Tay-Sachs disease, with neurodegeneration.

It tests Lysosomal storage disorders in Biochemistry. These Gaucher cells infiltrate the spleen, liver and marrow, causing organomegaly, cytopenias and bone disease.

We tag it as an application question: it asks you to use a fact on a patient or a finding. The tag is our own editorial judgement, not an official difficulty rating, so read the reason for every option, not only the answer.

Build one table of enzyme deficiency, disease, inheritance and key finding, then revise it by spaced recall. Then use the flashcards and the other Biochemistry questions on this site to test what stuck.

No. It is an original practice item (editorial status: sample, version 1). NextPrep does not publish recalled or leaked questions, and independent faculty review of this item has not been completed yet, so confirm important facts in a standard textbook.