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Gaucher disease, one of the most common lysosomal storage disorders, remains widely underdiagnosed in India and globally, despite being a treatable genetic condition. Caused by a deficiency of the enzyme glucocerebrosidase, the disease leads to the accumulation of fatty substances, or lipids, in vital organs such as the liver, spleen, bone marrow, and sometimes the brain. This progressive build-up disrupts normal organ function and can cause serious long-term complications if not identified early.