By Sarah Moudy Also known as Glucocerebrosidase deficiency

This disease (type 1) is most common in Ashkenazi Jewish heritage. These candidates have a 1 in 500 to 1,000 chance of receiving the disease. Throughout the rest of the general population, everyone has a 1 in 50,000 to 100,000 chance of receiving the disease. So it is not uncommon.

Type 1: Enlarged spleen and liver Anemia (low blood cell count) Easy bruising Lung disease Bone fractures, pain, and arthritis Types 2 and 3: (Same as type 1) + Abnormal eye movements Seizures Brain damage Perinatal lethal form (often fatal): Extensive swelling in infants Skin abnormalities Distinctive facial features Neurological problems Cardiovascular Type: Heart valves harden Eye abnormalities Bone disease Enlargement of spleen

Gauchers Syndrome is autosomal recessive, and is found on the GBA gene (chromosome 1) caused by a mutation. A child inherits this disease by both the mother and father carriers.

Blood tests are run Testing of bone marrow Biopsy of the spleen MRI CT scan X-ray of the skeleton Can be tested at any age Bone marrow transplant (in severe cases) Enzyme replacement therapy

The National Gaucher Foundation Children’s Gauchers Disease Research Fund

Discovered in 1882 by a French doctor named Philippe Gaucher First treatment approved by FDA in 1995 Most victims will appear to have a big belly

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