An autosomal recessive disorder caused by deficiency of the enzyme glucocerebrosidase (see glucosylceramidase) featuring the pathological storage of glycosylceramide in mononuclear phagocytes (Gaucher Cells). The most common subtype is the non-neuronopathic form, a slowly progressive condition characterised by hepatosplenomegaly and skeletal deformities. The neuronopathic forms are divided into infantile and juvenile forms. The infantile form presents at 4-5 months of age with anemia, loss of cognitive gains, neck retraction, dysphagia, and hepatosplenomegaly. The juvenile form features a slowly progressive loss of intellect, hepatosplenomegaly, ataxia, myoclonic seizures, and spasticity. The neuronopathic forms are characterised by neuronal loss with neuronophagia, and accumulation of glucocerebroside in neurons.