Lipid metabolism: Farber disease: practice question

The best answer is D, Acid ceramidase. Farber disease is a lysosomal storage disorder caused by deficiency of acid ceramidase, which splits ceramide into sphingosine and a fatty acid.

Acid sphingomyelinase deficiency causes Niemann-Pick disease with sphingomyelin storage.

Glucocerebrosidase deficiency causes Gaucher disease with glucosylceramide storage.

Galactocerebrosidase deficiency causes Krabbe disease with galactosylceramide storage.

It tests Lipid metabolism: Farber disease in Biochemistry. The ceramide accumulates in joints, subcutaneous tissue, the larynx and the nervous system. The other enzymes act on sphingomyelin, glucosylceramide and galactosylceramide.

We tag it as a multi-step question: it asks you to combine more than one idea. 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.