118 Gaucher disease is the most common lysosomal storage disorder (Box 1). A defi ciency of the enzyme glucocerebrosidase (Figure 1) causes accumulation of the glycolipid glucocerebroside in macrophages throughout the body. In the viscera, glucocerebroside arises mainly from the biodegradation of red and white blood cells. In the brain, glucocerebroside arises from the turnover of complex lipid...

lysosomal storage diseases (lsds) result from a genetic defect in synthesis and cellular transport of lysosomal enzyme to the lysosomes. lsds are progressive and may present at any age affecting multiple tissues and organ systems. they comprise a diverse group of over 40 clinically distinct inherited disorders. as a group they occur in approximately 1 in 5000 to 8000 births in the western socie...

INTRODUCTION Gaucher disease is caused by a deficiency of the enzyme β-glucocerebrosidase. Treatment with enzyme replacement therapy has been available for the past two decades but, although effective, enzyme replacement therapy can be delivered only by intravenous infusion every other week. The oral substrate reduction therapy miglustat (Zavesca®) has been available in Europe since 2002 for th...