Mutations in the lysosomal enzyme ß-glucosidase 1 (GBA1) cause Gauchers disease, the most common lysosomal lipid storage disease in humans. When GBA1 is absent or impaired, glycosylceramide (GlcCer) accumulates within the macrophage lysosomes, leading to liver and spleen enlargement, bone lesions and in the most severe cases, impairment of central nervous system functions.
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