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
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.

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

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.

TESTING 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)

FUN 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
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