GAUCHER DISEASE (Syllabus: GS Paper 3 – Sci and Tech)

Context: Recently, the five-year-old child exhibited considerable improvement following her treatment for the rare genetic Gaucher disorder.

Gaucher Disease

• About: It is a rare genetic disorder passed down from parents to children (inherited).
• When you have Gaucher disease, you are missing an enzyme that breaks down fatty substances called lipids. Lipids start to build up in certain organs such as your spleen and liver.
• Affected Part:  Lungs, brain, eyes, and bones.
• 3 Types of Gaucher Disease

oType 1: This is the most common type of Gaucher disease. It affects about 90% of people with the disease.

oType 2: This form of the disease affects babies by age 3 to 6 months. It is fatal. In most cases children don’t live beyond 2 years old.

oType 3: Symptoms include skeletal problems, eye movement disorders, seizures that become more obvious over time, blood disorders, breathing problems, and liver and spleen enlargement.

• Causes: Passed down from parents to children (is inherited). It is caused by a problem with the GBA gene. It is an autosomal recessive disorder.
• Symptoms: Enlarged spleen, Enlarged liver, Eye movement disorders, Yellow spots in the eyes, Not having enough healthy red blood cells (anemia), Extreme tiredness (fatigue), Bruising, Lung problems and Seizures.
• Treatment: Enzyme replacement therapy, Bone marrow transplant.