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
Treatments and Therapies
- Bone Marrow or Blood Stem Cell Transplants in Children with Certain Rare Inherited Metabolic Diseases (Agency for Healthcare Research and Quality) Available in Spanish
- Genetics Home Reference: Gaucher disease (National Library of Medicine)
Statistics and Research
- 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)