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About The Gaucher Disease

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:

  1. 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


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