Lipid storage disorders (or lipidoses) are a group of inherited metabolic disorders in which harmful amounts of lipids (fats) accumulate in some of the body’s cells and tissues. People with these disorders either do not produce enough of one of the enzymes needed to metabolize lipids or they produce enzymes that do not work properly. Over time, this excessive storage of fats can cause permanent cellular and tissue damage, particularly in the brain, peripheral nervous system, liver, spleen and bone marrow.

Lipids are broadly defined as any fat-soluble (lipophilic), naturally-occurring molecule, such as fats, oils, waxes, steroids (such as cholesterol and estrogen), sterols and others. Lipids are important parts of the membranes found within and between each cell and in the myelin sheath that coats and protects the nerves.

Inside the cells, lysosomes convert, or metabolize, lipids and proteins into smaller components to provide energy for the body. Disorders that store this intracellular material are part of the lysosomal storage diseases family of disorders and include GM1 gangliosidoses, GM2 gangliosidoses, Gaucher disease, Niemann-Pick disease, Fabry disease, fucosidosis, Schindler disease, metachromatic leukodystrophy (MLD), Krabbe disease, multiple sulfatase deficiency, Farber disease, and Wolman disease.