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Gaucher Disease

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 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

  • From the National Institutes of Health (National Institute of Neurological Disorders and Stroke)
  • (Organization of Teratology Information Specialists) - PDF Also in
  • (Genetic Alliance) - PDF
  • From the National Institutes of Health (National Human Genome Research Institute)
  • From the National Institutes of Health (National Institute of Neurological Disorders and Stroke) Also in

Genetics

  • From the National Institutes of Health (National Library of Medicine)

Clinical Trials

  • From the National Institutes of Health (National Institutes of Health)

Journal Articles References and abstracts from MEDLINE/PubMed (National Library of Medicine)

Patient Handouts

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