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Gaucher Disease

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:

(Read more)

Results 1 - 10 of 32 for Gaucher disease
  1. Gaucher Disease (National Library of Medicine)  
    Gaucher disease is a rare, inherited disorder. It is a type of lipid metabolism disorder. If you have ... affected. It usually starts in childhood or adolescence. Gaucher disease has no cure. Treatment options for types 1 ...
    https://medlineplus.gov/gaucherdisease.html - Health Topics
  2. Gaucher disease 
    Gaucher disease is an inherited disorder that affects many of the body's organs and tissues. The signs and symptoms of this condition vary widely among affected ...
    https://medlineplus.gov/genetics/condition/gaucher-disease -
  3. Gaucher disease 
    Gaucher disease is a rare genetic disorder in which a person lacks an enzyme called glucocerebrosidase (GBA). ... Gaucher disease is rare in the general population. People of Eastern and Central European (Ashkenazi) Jewish heritage are ...
    https://medlineplus.gov/ency/article/000564.htm - Medical Encyclopedia
  4. Learning about Gaucher Disease From the National Institutes of Health (National Human Genome Research Institute)  
    Gaucher disease is an autosomal recessive inherited disorder of metabolism where a type of fat (lipid) called glucocerebroside ...
    https://www.genome.gov/Genetic-Disorders/Gaucher-Disease - External Health Links
  5. Lipid Metabolism Disorders (National Library of Medicine)  
    ... with this process. Lipid metabolism disorders, such as Gaucher disease and Tay-Sachs disease, involve lipids. Lipids are ...
    https://medlineplus.gov/lipidmetabolismdisorders.html - Health Topics
  6. Gaucher Disease and Pregnancy (Organization of Teratology Information Specialists)  
    Gaucher Disease/Learn More ... Gaucher Disease ... Health Problems in Pregnancy/Related Issues ... Health Problems in Pregnancy ... Organization of Teratology Information ...
    https://mothertobaby.org/fact-sheets/gaucher-disease-pregnancy - External Health Links
  7. ClinicalTrials.gov: Gaucher Disease From the National Institutes of Health (National Institutes of Health)  
    Gaucher Disease/Clinical Trials ... Gaucher Disease
    https://clinicaltrials.gov/...her+Disease"&aggFilters=status:not rec - External Health Links
  8. PSAP gene 
    ... a disorder that resembles a severe form of Gaucher disease. Signs and symptoms of this condition include neurological ... as it does in the classic form of Gaucher disease. A few PSAP gene mutations have also been ...
    https://medlineplus.gov/genetics/gene/psap - Genetics
  9. Miglustat 
    Miglustat is used to treat Gaucher disease type 1 (a condition in which a certain fatty substance is not broken down normally in the body and instead builds ...
    https://medlineplus.gov/druginfo/meds/a604015.html - Drugs and Supplements
  10. Eliglustat 
    Eliglustat is used to treat Gaucher disease type 1 (a condition in which a certain fatty substance is not broken down normally in the body and builds up ...
    https://medlineplus.gov/druginfo/meds/a618038.html - Drugs and Supplements
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