Why 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 is the pathophysiology of Gaucher disease?
Gaucher disease (GD, ORPHA355) is a rare, autosomal recessive genetic disorder. It is caused by a deficiency of the lysosomal enzyme, glucocerebrosidase, which leads to an accumulation of its substrate, glucosylceramide, in macrophages.
What is Type 3 Gaucher disease?
Definition. Gaucher disease type 3 is the subacute neurological form of Gaucher disease (GD; see this term) characterized by progressive encephalopathy and associated with the systemic manifestations (organomegaly, bone involvement, cytopenia) of GD type 1 (see this term).
How does Gaucher disease affect lysosomes?
Enzymes within lysosomes break down or “digest” nutrients, including certain complex carbohydrates and fats. In Gaucher disease certain sugar (glucose) containing fat, known as glycolipids, abnormally accumulate in the body because of the lack of the enzyme, glucocerebrosidase.
What organelles are affected by Gaucher disease?
Lysosomes are spherical intracellular organelles where many lipids and macromolecules are delivered for degradation by hydrolytic enzymes. Lysosomes are abundant in macrophages. The lysosomes in the macrophages of patients with Gaucher disease become progressively enlarged and filled with undigested glucocerebroside.
What is the relationship between lysosomes and Gaucher disease?
How is Gaucher disease diagnosed?
An enzyme test called a beta-glucosidase leukocyte (BGL) test is the main tool that physicians use to diagnose Gaucher disease. This is because all patients with Gaucher disease will have low enzyme activity levels. Your physician can measure enzyme activity with a standard blood test.
Is Type 3 Gaucher disease treatable?
Treatment for Gaucher Disease Types 2 and 3 There is currently no effective treatment for Gaucher disease type 2. Patients with Gaucher disease type 3 can receive enzyme replacement therapy (ERT) to address symptoms not involving the brain, like organ enlargement and bone issues.
What is the life expectancy of someone with Gaucher disease type 3?
Patients with Gaucher disease type 3 have a shorter life expectancy, but treatment helps some patients with relatively mild neurological involvement live into their 50s. Researchers are investigating new drugs capable of crossing the blood-brain barrier, which acts to protect the brain but also filters out medications.