Gaucher disease is an inborn error of metabolism due to a deficiency of the lysosomal enzyme glucocerebrosidase and is the most common of approximately 40 hereditary lysosomal storage disorders. Although the disease was first described over 125 years ago, it has taken more than 100 years to find an effective therapy. The genetic, epigenetic, biochemical, metabolic and environmental elements that contribute to the marked phenotypic heterogeneity associated with GD remain an important challenge with significant implications for basic research, clinical management, and patient and family counseling. This book of 16 chapters authored by international experts fully explains current understanding of Gaucher disease and explore its characterization, diagnosis and the therapeutic options available.