Norrbottnian Gaucher Disease
📋Overview
Norrbottnian Gaucher Disease is a specific form of Gaucher disease identified in the Norrbotten region of Sweden. This condition is classified as a lysosomal storage disorder resulting from deficient activity of the enzyme glucocerebrosidase.
The enzymatic deficiency leads to the accumulation of glucocerebroside within macrophages, which can impact multiple organ systems. This variant is generally categorized as a subtype of Type 1 Gaucher disease, which is typically considered a non-neuronopathic form of the condition.
🛡️ Educational information only
This content is provided for general health education and awareness and is based on publicly available medical information. It is not intended to replace professional medical advice, diagnosis, or treatment, and should not be used to make healthcare decisions. Always seek the guidance of a qualified healthcare professional regarding any medical condition, medication, supplement, or procedure.
Additional Resources
Found an Error?
Help us keep this information accurate. If you notice any incorrect details, please submit a correction request.