About Lysosomal storage disorders

Lysosomal storage disorders (LSDs) are inherited metabolic diseases characterized by an abnormal build-up of various toxic materials in cells in the body. In patients with LSDs, an enzyme used to break down these materials is either missing or malfunctions. There are nearly 50 known LSDs, and each can affect different parts of the body including the skeleton, brain, skin, heart, and central nervous system. Lysosomal storage disorders affect about one in every 5,000 live births. Treatments are available for certain LSDs, including Gaucher disease, Fabry disease and Pompe disease. Prenatal diagnosis is possible for many LSDs, and early diagnosis and intervention can help to improve patient health and quality of life.

Resources for more information about Lysosomal Storage Disorders

For more information about Lysosomal Storage Disorders, please visit lysosomaldiseasenetwork.org.