Gaucher disease, the most common lysosomal storage disorder, is a heterogeneous
multisystem condition. Patients with non-neuronopathic (type 1) Gaucher disease may suffer
from hepatomegaly, splenomegaly, thrombocytopenia, bleeding tendencies, anemia,
hypermetabolism, skeletal pathology, growth retardation, pulmonary disease, and
decreased quality of life. Enzyme replacement therapy (ERT) with mannose-terminated
glucocerebrosidase reverses or ameliorates many of the manifestations of type 1 Gaucher …

Although first identified in 1882 by French physician Philippe CE Gaucher, for many years
little was known about Gaucher disease beyond its debilitating and often fatal manifestations
in patients who were recognized as having the disorder. By the midtwentieth century,
Gaucher disease came to be understood as an inborn biochemical disorder characterized
by an accumulation of glucocerebroside predominantly within a hereditary autosomal
recessive disorder had been clarified. Two major clinical subtypes illness now known as …