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Norrbottnian Gaucher Disease - Medical Condition Information

Norrbottnian Gaucher Disease

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Norrbottnian Gaucher Disease is a regional variant of Gaucher disease, a lysosomal storage disorder caused by deficient activity of the enzyme glucocerebrosidase. This leads to accumulation of glucocerebroside in macrophages, affecting multiple organs. The term 'Norrbottnian Gaucher Disease' refers to a form identified in the Norrbotten region of Sweden and is considered a subtype of Type 1 Gaucher disease, which is the non-neuronopathic form.

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