Gaucher's disease
a genetically determined (autosomal RECESSIVE ) disease resulting from the deposition of glucocerebrosides (see CEREBROSIDE ) in the brain and other tissues (especially bone). It causes mental retardation, abnormal limb posture and spasticity, and difficulty with swallowing. Carrier detection and PRENATAL DIAGNOSIS are possible; enzyme replacement therapy may be used in treatment.
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
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