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Norrbottnian Gaucher Disease - Medical Condition Information

Norrbottnian Gaucher Disease

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Educational overview only. This page summarizes publicly available health information for general understanding and awareness. It does not provide medical advice, diagnosis, or treatment. For personalized guidance or care decisions, consult a qualified healthcare professional.

📋Overview

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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