Gaucher disease

About Gaucher disease

• It is an inherited lysosomal storage disorder (LSD).
• It is a type of disease that causes fatty substances (sphingolipids) to build up in your bone marrow, liver and spleen.
• The sphingolipids weaken bones and enlarge your organs.
• Symptoms: Enlarged spleen, liver, eye movement disorders and yellow spots in the eyes etc.
• There are three types of Gaucher disease 
  • Type1: It affects your spleen, liver, blood and bones. It doesn’t affect your brain or spinal cord. Gaucher disease type 1 is treatable, but there’s no cure.
  • Type 2: A rare form of the disorder appears in babies younger than 6 months old.
  • It causes an enlarged spleen, movement problems and severe brain damage. There’s no treatment for Gaucher disease type 2.
  • Type 3: It is the most common form which appears before age 10 and causes bone and organ abnormalities and neurological (brain) problems.
  • Treatments can help many people with Gaucher disease type 3 live into their 20s or 30s.
• Treatment: There’s no cure for Gaucher disease, but treatments can relieve symptoms and greatly improve quality of life.

Q1) What are Lysosomes ?

These are termed to be degradative organelles that act as the waste disposal system of the cell by digesting used materials in the cytoplasm, from both inside and outside the cell.

Source: Big jolt for kids with rare genetic disorder