What is the enzyme deficiency in Gaucher disease?

What is the enzyme deficiency in Gaucher disease?

What is the enzyme deficiency in Gaucher disease?

Gaucher disease is an inherited metabolic disorder. It’s passed down through families. People with Gaucher disease don’t have enough of an enzyme called glucocerebrosidase (GCase). Enzymes like GCase are proteins that perform several tasks, including breaking down fats (sphingolipids) in the body.

What is the main cause of Gaucher disease?

Gaucher disease is passed down from parents to children (is inherited). It is caused by a problem with the GBA gene. It is an autosomal recessive disorder. This means that each parent must pass along an abnormal GBA gene for their child to get Gaucher.

How does Gaucher disease affect the liver?

When you have Gaucher disease, you are missing an enzyme that breaks down certain types of fatty substances (lipids). These lipids can build up in organs such as your spleen and liver. This condition can cause many different symptoms. Your spleen and liver may get very large and stop working normally.

What happens in Gaucher disease?

Gaucher disease is caused by low levels of glucocerebrosidase (GCase), an enzyme that breaks down a fatty chemical in the body called glucocerebroside. Gaucher cells are normal scavenger cells called macrophages that become full of unprocessed glucocerebroside.

Why is enzyme replacement a therapy for Gaucher disease?

How Does Enzyme Replacement Therapy Work? ERT balances low levels of glucocerebrosidase (GCase) enzyme with a modified version of the enzyme. This enzyme breaks down glucocerebroside, the fatty chemical that accumulates in the body of patients with Gaucher disease.

What genetic disorder is associated with the lack of an enzyme?

Hunter syndrome is a very rare, inherited genetic disorder caused by a missing or malfunctioning enzyme. In Hunter syndrome, the body doesn’t have enough of the enzyme iduronate 2-sulfatase.

Does Gaucher disease cause weight gain?

Diet as part of overall care for Gaucher disease People with GD may be at higher risk for certain medical issues, and a nutritious diet can keep them on a healthy path. Weight gain: People often gain weight after starting ERT, which can lead to an increase in fatty liver and a risk of developing fatty liver disease.

How is gauchers disease diagnosed?

Doctors use a standard blood test called a beta-glucosidase leukocyte (BGL) test to check enzyme activity and diagnose Gaucher disease. However, most physicians are unfamiliar with Gaucher disease. A pediatrician may notice an enlarged spleen, bleeding problems and low platelets without considering Gaucher disease.

Is glucocerebrosidase and Glucosylceramide the same thing?

Glucocerebroside (also called glucosylceramide) is any of the cerebrosides in which the monosaccharide head group is glucose.

Where does glucocerebroside come from?

In the brain, glucocerebroside comes from the processing of lipids during brain development and the formation of the myelin sheath (the fatty coating around each nerve fiber).

How could a person be treated for the lack of the enzyme?

When there is a dysfunction with your enzymes, it can have harmful consequences that require lifelong treatments. Often, the best available course of action is simply to replace the deficient enzymes in a process known as enzyme replacement therapy.