Gaucher Disease
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Inherited metabolic disorder in which a glucocerebrosidase (enzyme) deficiency leads to the accumulation of harmful quantities of lipids (fats) throughout the body, predominantly within the spleen, liver, and bone marrow​
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Caused by mutations in the glucocerebrosidase (GBA) gene
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Inherited in an autosomal recessive manner
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Categorized as a Lysosomal Storage Disorder (LSD)
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Divided into three categories by the absence of, presence of, or extent of neurological symptoms
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Type 1: non-neuropathic
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No effect on the central nervous system
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90% of all cases
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Type 2: acute neuropathic​
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Neurological issues due to the accumulation of glucocerebrosidase in the brain​
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Occurs in newborns and infants and progresses quickly, often leading to death within 1-3 years
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Type 3: chronic neuropathic
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Neurological complications develop slowly
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Patients often live until between their adolescence and 30s​
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Severity is between Type 1 and Type 2, with Type 1 symptoms and some neurologic symptoms
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Affects about 6,000 people in the United States, many of whom have Ashkenazic Jewish ancestry
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Type 1 Gaucher Disease is the most common genetic disorder in people with Ashkenazic Jewish ancestry, with an incidence as high as 1 in every 450 people​
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As many as 1 in 10 people with Ashkenazic Jewish ancestry are carriers of the mutated gene
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Symptoms vary greatly depending on the type of Gaucher Disease
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Enlarged liver/spleen​
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Bone pain and weakness
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Anemia and fatigue
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Bleeding and bruising issues
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Thrombocytopenia
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Skeletal abnormalities
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Neurological complications
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Mental deterioration
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More!
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Treatments aim to improve quality of life for patients and differ based on the type of Gaucher Disease the patient is affected wit
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There are currently 3 FDA-approved Enzyme Replacement Therapies (ERTs) and 2 FDA-approved Substrate Reduction Therapies (SRTs)​
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​Type 1: often treated with an ERT given every 2 weeks via IV infusions or with an SRT administered as a daily tablet/capsule​
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Type 2: not considered treatable due to the early, rapid, and irreversible brain damage that occurs
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Type 3: may be treated with an ERT
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Sources
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