Reduced tissue galactocerebrosidase activity

What it means

Concentration or activity of galactocerebrosidase (EC 3.2.1.46) below the lower limit of normal. This enzyme can be measured in multiple tissues including leukocytes and cultured fibroblasts.

Reduced galactocerebrosidase activity is a feature of Krabbe disease. Galactosylceramidase is a lysosomal enzyme involved in the catabolism of galactosylceramide, a major lipid in myelin, kidney, and epithelial cells of the small intestine and colon

Rare diseases that can present with this4

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: Reduced circulating galactocerebrosidase activity · Reduced galactocerebrosidase activity in cultured fibroblasts · Reduced leukocyte galactocerebrosidase activity