Elevated circulating beta-hexosaminidase activity

What it means

The activity of beta-hexosaminidase in the blood circulation is above the upper limit of normal.

This enzyme removes a beta-1,4-linked N-acetylhexosamine residue from the GM2 ganglioside.

Rare diseases that can present with this1

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. A sign on this page is a conversation to have with a clinician, not a conclusion.

Part of the broader category

Also called: Elevated beta-hexosaminidase concentration · Elevated beta-hexosaminidase level · Elevated beta-hexosaminidase level in blood · Increased beta-hexosaminidase concentration · Increased beta-hexosaminidase level · Increased beta-hexosaminidase level in blood · Increased circulating beta-hexosaminidase activity