Context:
Children suffering from lysosomal storage disorders like Gaucher disease are facing a bleak future as their treatment has been stopped due to the exhaustion of one-time support from the Union health Ministry.
Relevance:
GS II: Health
Dimensions of the Article:
- About Gaucher Disease
About Gaucher Disease:
Type of Disorder: Gaucher disease is an inherited lysosomal storage disorder (LSD).
Nature of the Disease:
- It leads to the accumulation of fatty substances (sphingolipids) in the bone marrow, liver, and spleen.
- This accumulation weakens bones and causes enlargement of organs.
Symptoms:
- Enlarged spleen and liver.
- Eye movement disorders.
- Yellow spots in the eyes, among others.
Treatment:
- No cure for Gaucher disease.
- Treatments focus on relieving symptoms and significantly improving the quality of life.
Types of Gaucher Disease:
- Type 1:
- Affects spleen, liver, blood, and bones.
- Does not impact the brain or spinal cord.
- Treatable, but no cure exists.
- Type 2:
- Rare form appearing in babies under 6 months.
- Causes enlarged spleen, movement problems, and severe brain damage.
- No treatment available.
- Type 3:
- Most common form appearing before age 10.
- Causes bone and organ abnormalities and neurological (brain) problems.
- Treatments can extend life into the 20s or 30s.
-Source: Times of India
