The lysosomal storage diseases (LSDs) are a set of genetic disorders of the lysosomal enzymes in which a buildup of undigested macromolecules accumulate, causing extreme cell degeneration. There are 49 variations of the disease currently recognized and being treated. These diseases strike the lysosome, an organelle housed in the body's cells, that are responsible for producing enzymes that break down macromolecules to be used for energy. When those molecules are left whole, the cell eventually suffers cell death and must be treated using the therapy best suited to the specific lysosomal storage disease and to the patient.
In a normal, healthy lysosome, the enzymes produced by the endoplasmic reticulum, another organelle within each cell, are stored and used to break down energy molecules that are either used by the cell as a whole or excreted into the lymph system. When this function is impaired by any type of metabolic disorder, such as one of the lysosomal storage diseases, the organs of the body will not function as effectively. The result to the patient includes a progressive decline of mental and physical abilities and will eventually result in death. The inherited metabolic disorders are considered relatively rare in most countries and researchers are looking for more effective ways to treat them.
Most specialists and doctors approach the lysosomal storage diseases with treatments designed for the specific disorder among the known 49 in existence. Bone marrow transplants are used whenever possible for LSD patients and are believed most effective when performed early in the disease's progression. When possible, the medical community prefers to use this treatment when the patient is an infant and less likely to suffer any tissue rejection complications. Another type of treatment used in treating the lysosomal storage diseases is enzyme replacement therapy (ERT), which involves the use of deficient enzymes administered through the patient's IV.
Doctors have found hematopoietic stem cell transplant to be useful in slowing the effects of the lysosomal storage diseases as well. The stem cells used for this treatment are found in the bone marrow, or in some cases, they are harvested from cord blood. Not only does this treatment supply the body with healthy, functioning enzymes, it also provides healthy cells to replace some of the lost or damaged ones. Not all treatments are effective on every type of the LSDs, and careful analysis is necessary to match the correct treatment to the patient's needs.