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Gaucher Disease

Gaucher Disease . Mary Jauch Persson. Different types of the diease. Type 1-childhood (most common) Enlarge liver Low blood cell level Anaemia Tiredness easy bruising tendency to bleed bone itself may become thin and more likely to break. Type 2 and 3 .

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Gaucher Disease

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  1. Gaucher Disease Mary Jauch Persson

  2. Different types of the diease • Type 1-childhood (most common) • Enlarge liver • Low blood cell level • Anaemia • Tiredness • easy bruising • tendency to bleed • bone itself may become thin and more likely to break

  3. Type 2 and 3 • Type 2-normal birth but later they start to show • deterioration in the organs • enlargement of the liver and spleen • damage to the nervous system • abnormal eye movements • wallowing problems • Seizures • Type 3-same as 2 but appears later on in persons life • also damage to the nervous system but it’s later in onset and progresses more slowly.

  4. What is gaucher disease • Gaucher disease is a deficiency of an enzyme called glucocerebrosidase • normally breaks down a fatty substance called glucocerebroside. • 1 in 50,000 to 100,000 people • Mutations in the GBA gene • autosomal recessive pattern • Ressive gene

  5. Prognosis/treament • No treatment • Could get gene therapy • Most affected children die before age 5. • Adults with the type 1 form of the disease can expect normal life with enzyme replacement therapy.

  6. Testing and organization • it’s possible to test a person’s blood for gene • person’s blood for levels of activity of the glucocerebrosidaseenzyme • low levels suggest the carrier or disease state. • The National Gaucher Foundation (NGF) will help you • National Organization for Rare Disorders (NORD)

  7. Fun facts • Can be called… • Glucocerebrosidasedeficiency • Glucosylceramidase deficiency • Persons of Eastern and Central European (Ashkenazi) Jewish heritage are at highest risk for the disease.

  8. bibilography • Untitled: 01/11/13, 12:50PM • Select Format: MLA | APA | Chicago | Turabian • " Google Image Result for http://www.ispub.com/journal/the-internet-journal-of-pathology/volume-6-number-1/gaucher-s-disease-in-a-72-year-old-man-case-report-and-review-of-literature.article-g04.fs.jpg." Google. N.p., n.d. Web. 11 Jan. 2013. <http://www.google.com/imgres?um=1&hl=en&client=firefox-a&hs=HmR&sa=N&tbo=d&rls=org.mozilla:en-US:official&biw=1280&bih=885&tbm=isch&tbnid=QTCxzedszJ_aDM:&imgrefurl=http://www.ispub.com/journal/the-internet-journal-of-pathology/volume-6-number-1/gaucher-s-disease-in-a-72-year-old-man-case-report-and-review-of-literature.html&docid=OgXy-DEjvR1FwM&imgurl=http://www.ispub.com/journal/the-internet-journal-of-pathology/volume-6-number-1/gaucher-s-disease-in-a-72-year-old-man-case-report-and-review-of-literature.article-g04.fs.jpg&w=526&h=374&ei=DnTwUPa3O4L48wTU8IGoCg&zoom=1&iact=rc&dur=389&sig=106140738663307182293&page=1&tbnh=143&tbnw=201&start=0&ndsp=35&ved=1t:429,r:0,s:0,i:84&tx=134&ty=86>.

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