- Lysosomal storage diseases, including Gaucher Disease, are orphan drug designated diseases
- Lysosomal storage diseases are a group of approximately 50 rare inherited metabolic disorders that are characterized by an abnormal build-up of various toxic materials in the body's cells as a result of enzyme deficiencies
- Gaucher Disease and other lysosomal storage diseases originate from genetic mutations that result in “misfolded” or mutated enzymes
- Even though these enzymes are misfolded many, including Glucocerebrosidase (the enzyme deficiency responsible for Gaucher Disease), are functional
- Misfolded enzymes are naturally destroyed via Endoplasmic Reticulum Associated Degradation (ERAD), which results in the disease state caused by critical enzyme deficiencies
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- Gaucher Disease & Lysosomal Storage Diseases