Gaucher’s disease

Gaucher’s disease is a genetic disorder caused by a deficiency of the enzyme glucocerebrosidase, leading to the buildup of fatty substances in certain organs.

Name:

Mohammad Hamadan

Age:

6 Years

Location:

Karachi, Pakistan

Diagnosis:

Gaucher’s disease

Story:

Gaucher's disease (GD) is a rare, inherited genetic disorder that causes fatty substances to build up in the liver, spleen, and bone marrow. This buildup, called hepatosplenomegaly, weakens bones and enlarges organs, impairing their function. Hamadan was diagnosed right after birth. His care and support was continued until his death in 2022.

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