G AUCHER D ISEASE Mary Jauch Persson

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.

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