Gaucher disease is a rare, inherited disorder in which 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 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
- Gaucher Disease (National Institute of Neurological Disorders and Stroke) - Short Summary
- Gaucher Disease in Pregnancy (Organization of Teratology Information Specialists) - PDF Available in Spanish
- Genetics Home Reference: Gaucher disease (National Library of Medicine)
- How Do I Talk to My Family about Gaucher? (Genetic Alliance) - PDF
- Learning about Gaucher Disease (National Human Genome Research Institute)
- Lipid Storage Diseases (National Institute of Neurological Disorders and Stroke) Available in Spanish
- Lipid Storage Diseases (National Institute of Neurological Disorders and Stroke) - Short Summary
- NIH Researchers Use Brain Imaging to Understand Genetic Link between Parkinson's and a Rare Disease (National Human Genome Research Institute, National Institute of Mental Health)
- ClinicalTrials.gov: Gaucher Disease (National Institutes of Health)
Journal ArticlesReferences and abstracts from MEDLINE/PubMed (National Library of Medicine)
- Article: Proof-of-principle rapid noninvasive prenatal diagnosis of autosomal recessive founder mutations.
- Article: Gaucher disease presenting with vertebral compression fractures and vertebral osteonecrosis.
- Article: Gaucher disease. Unusual presentation and mini-review.
- Gaucher Disease -- see more articles