Lysosomal storage diseases (LSDs) are genetic disorders that cause a buildup of undigested macromolecules, leading to cellular degeneration. There are 49 recognized variants, each requiring specific treatment such as bone marrow transplants or enzyme replacement therapy. Hematopoietic stem cell transplantation can also slow the effects of LSDs.
Lysosomal storage diseases (LSDs) are a set of genetic lysosomal enzyme disorders in which a buildup of undigested macromolecules builds up, causing extreme cellular degeneration. There are 49 variants of the disease currently recognized and treated. These diseases affect the lysosome, an organelle housed in the body’s cells that is responsible for producing enzymes that break down macromolecules to be used for energy. When these molecules are left intact, the cell eventually undergoes cell death and must be treated using the therapy best suited to the specific lysosomal storage disease and patient.
In a normal, healthy lysosome, 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 lymphatic system. When this function is impaired by any type of metabolic disorder, such as one of the lysosomal storage diseases, the body’s organs will not function as effectively. The outcome for the patient includes a progressive decline in mental and physical abilities and will eventually lead to death. Inherited metabolic disorders are considered relatively rare in most countries and researchers are looking for more effective ways to treat them.
Most specialists and physicians approach lysosomal storage diseases with treatments designed for the specific disorder out of 49 known to exist. Bone marrow transplants are used whenever possible for patients with LSD and are thought to be most effective when done early in disease progression. Whenever possible, the medical community prefers to use this treatment when the patient is a newborn and is less likely to suffer complications from tissue rejection. Another type of treatment used in the treatment of lysosomal storage diseases is enzyme replacement therapy (ERT), which involves the use of deficient enzymes administered through the patient’s IV.
Doctors have discovered that hematopoietic stem cell transplantation is also useful for slowing the effects of lysosomal storage diseases. The stem cells used for this treatment are found in the bone marrow or, in some cases, are harvested from cord blood. Not only does this treatment provide the body with healthy, functioning enzymes, but it also provides healthy cells to replace some of the lost or damaged ones. Not all treatments are effective on every type of LSD, and careful analysis is required to match the correct treatment to the patient’s needs.
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