Summary
Gaucher disease is a rare, inherited disorder. It is a type of lipid metabolism disorder. If you have it, you do not have enough of an enzyme called glucocerebrosidase. This causes too much of a fatty substance to build up in your spleen, liver, lungs, bones and, sometimes, your brain. This prevents these organs from working properly.
There are three types:
- Type 1, the most common form, causes liver and spleen enlargement, bone pain and fractures (broken bones), and, sometimes, lung and kidney problems. It does not affect the brain. It can occur at any age.
- Type 2, which causes severe brain damage, appears in infants. Most children who have it die by age 2.
- In type 3, there may be liver and spleen enlargement. The brain is gradually affected. It usually starts in childhood or adolescence.
Gaucher disease has no cure. Treatment options for types 1 and 3 include medicine and enzyme replacement therapy, which is usually very effective. There is no good treatment for the brain damage of types 2 and 3.
NIH: National Institute of Neurological Disorders and Stroke
Learn More
- Gaucher Disease and Pregnancy (Organization of Teratology Information Specialists) Also in Spanish
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Learning about Gaucher Disease
(National Human Genome Research Institute)
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Lipid Storage Diseases
(National Institute of Neurological Disorders and Stroke)
Genetics
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Gaucher disease: MedlinePlus Genetics
(National Library of Medicine)
Clinical Trials
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ClinicalTrials.gov: Gaucher Disease
(National Institutes of Health)
Journal Articles References and abstracts from MEDLINE/PubMed (National Library of Medicine)
- Article: Old disease-New reflections: Gaucher, immunity, and inflammation.
- Article: Functional Analysis of Human GBA1 Missense Mutations in Drosophila: Insights into...
- Article: High-throughput screening for small-molecule stabilizers of misfolded glucocerebrosidase in Gaucher disease...
- Gaucher Disease -- see more articles
Patient Handouts
- Gaucher disease (Medical Encyclopedia) Also in Spanish