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Gaucher Disease

  • 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​

    • Caused by mutations in the glucocerebrosidase (GBA) gene

    • Inherited in an autosomal recessive manner

    • Categorized as a Lysosomal Storage Disorder (LSD)

  • Divided into three categories by the absence of, presence of, or extent of neurological symptoms

    • Type 1: non-neuropathic

      • No effect on the central nervous system

      • 90% of all cases

    • Type 2: acute neuropathic​

      • Neurological issues due to the accumulation of glucocerebrosidase in the brain​

      • Occurs in newborns and infants and progresses quickly, often leading to death within 1-3 years

    • Type 3: chronic neuropathic

      • Neurological complications develop slowly

        • Patients often live until between their adolescence and 30s​

      • Severity is between Type 1 and Type 2, with Type 1 symptoms and some neurologic symptoms

  • Affects about 6,000 people in the United States, many of whom have Ashkenazic Jewish ancestry

    • 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​

      • As many as 1 in 10 people with Ashkenazic Jewish ancestry are carriers of the mutated gene

  • Symptoms vary greatly depending on the type of Gaucher Disease

    • Enlarged liver/spleen​

    • Bone pain and weakness

    • Anemia and fatigue

    • Bleeding and bruising issues

    • Thrombocytopenia

    • Skeletal abnormalities

    • Neurological complications

    • Mental deterioration

    • More!

  • Treatments aim to improve quality of life for patients and differ based on the type of Gaucher Disease the patient is affected wit

    • There are currently 3 FDA-approved Enzyme Replacement Therapies (ERTs) and 2 FDA-approved Substrate Reduction Therapies (SRTs)​

      • ​Type 1: often treated with an ERT given every 2 weeks via IV infusions or with an SRT administered as a daily tablet/capsule​

      • Type 2: not considered treatable due to the early, rapid, and irreversible brain damage that occurs

      • Type 3: may be treated with an ERT

 
Sources

NORD

National Gaucher Foundation

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