Lysosomal Storage Diseases

Lysosomal storage diseases (LSD) are a group of inherited disorders caused by the lack of specific enzymes that are needed for normal cellular function. The lack of these enzymes leads to an accumulation of macromolecules, including proteins, lipids, glycogen, and mucopolysaccharides in various tissues, including the brain, and damage to them. LSDs are caused by mutations in over 50 genes. Symptoms may include physical deformities, cognitive deficits, and growth delays. Treatments currently available include enzyme replacement therapy, supportive care, bone marrow or stem cell transplants, and gene or cell therapies. Each person with a lysosomal storage disease must be treated with an individualized approach.