Decreased beta-glucocerebrosidase level

What it means

Reduced level of the enzyme beta-glucosidase, an enzyme that catalyzes the hydrolysis of glucosylceramide into ceramide and glucose.

An enzyme that hydrolyzes beta-glucosides in cerebrosides.

Rare diseases that can present with this5

The range is how often this sign appears among people diagnosed with each disease — it is not a probability of having any of them. Many of these signs also occur in common, non-rare conditions, and Orphanet separately records 1 disease where this sign is specifically absent. A sign on this page is a conversation to have with a clinician, not a conclusion.

Part of the broader category

Also called: Decreased lysosomal acid glucosylceramidase activity