Research Notes on Norrbottnian Gaucher Disease
Norrbottnian Gaucher disease is a rare inherited biochemical disorder that often appears in childhood.1 It only affects fewer than 1 in 100,000 births. This type is also known as type 3 Gaucher disease, and was tagged as Norrbottnian due to increased incidence in the Norrbotten province of northern Sweden.2 This condition is characterized by mild involvement of the central nervous system, with a slower and more favorable course compared to type 2.3
Fast Facts:
- Enzyme replacement therapy is very effective for most patients with types 1 and 3 Gaucher disease.4
- Symptoms include fatigue, easy bruising, enlarged abdomen, enlarged liver and spleen, and portal hypertension.1
- Can present itself during infancy or childhood.5
Top Resources on Norrbottnian Gaucher Disease
- eMedicine: Gaucher Disease Introduction
- WrongDiagnosis: Gaucher Disease Type 3
- Gold Bamboo: Gaucher Disease, Type 3
- Wikipedia: Gaucher's Disease Subtypes
- National Institute of Neurological Disorders and Stroke (NINDS): Gaucher's Disease Information Page
- Medic8 Genetic Disorders: Gaucher Disease, Type 3
- Online Mendelian Inheritance in Man (OMIM): Gaucher Disease, Type III
Research Notes References
- ↑ 1.0 1.1 WrongDiagnosis: Gaucher Disease Type 3
- ↑ Medic8 Genetic Disorders: Gaucher Disease, Type 3
- ↑ Gold Bamboo: Gaucher Disease, Type 3
- ↑ National Institute of Neurological Disorders and Stroke (NINDS): Gaucher's Disease Information Page
- ↑ eMedicine: Gaucher Disease Clinical
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About this WisdomCard
- Contributor: Lesgreen Babaran, PTRP
- Reviewer: ASandhu
- Supervised by: The OrganizedWisdom Physician Review Team
- Last update: Oct. 2, 2008
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