G

AUCHER

Mary Jauch Persson D

ISEASE

D

IFFERENT 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

T

YPE

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.

W

HAT 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

P

ROGNOSIS

/

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.

T

ESTING AND ORGANIZATION

 it’s possible to test a person’s blood for gene    person’s blood for levels of activity of the glucocerebrosidase enzyme low levels suggest the carrier or disease state.

The National Gaucher Foundation (NGF) will help you  National Organization for Rare Disorders (NORD)

F

UN FACTS

 Can be called…    Glucocerebrosidase deficiency Glucosylceramidase deficiency Persons of Eastern and Central European (Ashkenazi) Jewish heritage are at highest risk for the disease.

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. .