The enzyme deficient in Gaucher disease is glucocerebrosidase (also known as GBA1).
Gaucher disease is a genetic disorder resulting from mutations in the GBA1 gene. This gene provides the instructions for creating glucocerebrosidase, an enzyme crucial for breaking down a fatty substance called glucocerebroside. When glucocerebrosidase is deficient or not functioning properly, glucocerebroside accumulates in cells, particularly in the spleen, liver, and bone marrow, leading to the various signs and symptoms of Gaucher disease.
Here's a breakdown:
- Glucocerebrosidase (GBA1): This is the enzyme that normally breaks down glucocerebroside.
- Glucocerebroside: This is a fatty substance (lipid) that is normally broken down by glucocerebrosidase.
- Gaucher Disease: This disease occurs when a deficiency in glucocerebrosidase causes glucocerebroside to accumulate.
In essence, Gaucher disease stems from a malfunctioning glucocerebrosidase enzyme, leading to the buildup of its substrate, glucocerebroside.
