Gaucher disease, type 1

Acid beta-glucosidase deficiency; GBA deficiency; Non-Neuronopathic Gaucher Disease

Pictures

Hannah at her first Cerezyme infusion for Gaucher s Disease type

We aren t sure which type of Gaucher s Disease Hannah has yet but after three nurses tried three different IV attempts the rest of the infusion treatment was a breeze as long as the Wiggles were on the TV my beautiful 6 month old girl was a happy camper during the 2 1 2 hour infusion

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Synonyms Gaucher s Disease Niemann Pick Disease Fabry s Disease Definition

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Gaucher cells Lipid engorged cells with eccentric nuclei known as Gaucher cells accumulate and displace healthy normal cells in bone marrow and visceral organs causing a host of signs including

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Gaucher disease is a condition wherein patients suffering from it are at an increased risk of developing bone complications including including osteopenia osteoporosis and fractures An enzyme replacement therapy Cerezyme® is the standard care of treatment for pediatric and adult patients with a confirmed diagnosis of Type 1 Gaucher disease that results in one or more of

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their child will inherit two mutated genes and will develop Gaucher disease These the two diagrams below show how the Gaucher gene may be passed from one generation to the next Genetic testing and counseling

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the child will have Gaucher disease a 1 in 2 chance the child will not have the disease but will be a carrier and a 1 in 4 chance the child will neither have the disease nor be a carrier Symptoms The symptoms of Type 1 Gaucher disease are extremely variable Some individuals are mildly affected and have little or no health problems while others show much more significant

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The Ashkenazi connection Although Gaucher disease is panethnic the incidence rate is relatively high as many as 1 in 450 people among individuals of Eastern European Ashkenazi Jewish descent with a carrier

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What does Cerezyme do In ordinary cells an enzyme called glucocerebrosidase breaks down specific fat molecules that accumulate within a compartment of the cell As discussed in the About Gaucher section people

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disease affecting Ashkenazi Jews The disease occurs in 1 out of 450 births in this population according to the National Gaucher Foundation In fact it is more prevalent than Tay Sachs and as many as 1 in 14 Ashkenazi Jews may be carrying the gene mutation that causes Type 1 Gaucher disease A person must have two affected genes one from each parent to have the disease A

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ISO2000 9001 Num EC2751 07 El ritmo de incorporación anual de pacientes al Registro desde su creación en 1993 queda reflejado en el siguiente gráfico Es de resaltar que la práctica totalidad de los pacientes estudiados proceden de hospitales de la red sanitaria pública y que tanto las determinaciones como su transporte e

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Learn about Gaucher disease its causes and symptoms treatment of Type 1 Gaucher disease with Cerezyme therapy and ways to cope with the disease

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Access information on Gaucher disease diagnosis treatment of Type 1 Gaucher disease with Cerezyme therapy and valuable clinical resources

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Type I Gaucher disease is more prevalent among people of Ashkenazi Jewish Eastern European decent affecting as many as 1

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is encouraged for continual enhancement of the scientific information that it contains and for optimizing the prospect of improving future outcomes of patients with Gaucher disease Therapeutic Goals and Monitoring for Type 1 Gaucher Disease

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Lessons Learned from Enzyme Replacement Therapy for Type 1 Gaucher s Disease Implications for GSD 1a Ms Jean Campbell VP Development NORD Overview of the National Organization of Rare Disorders

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