What are lysosomal storage disease?
Lysosomal storage disease (LSD) is a set of genetic disorders of lysosomal enzymes in which the accumulation of undigested macromolecule accumulates, causing extreme cell degeneration. At present, 49 variations of the disease are recognized and treated. These diseases affect the lysosome, or the organelle placed in the cells of the body, which are responsible for the production of enzymes that break down macromolecules to be used for energy. When these molecules are left all over, the cell eventually suffers from cellular death and must be treated with therapy best for a specific disease of lysosomal storage and for the patient.
In normal, healthy lysosome, enzymes produced by endoplasmic reticulum, other organelles in each cell, are stored and used to decompose the energy molecules that use the cells either as a whole or exclude into the lymphatic system. When this function is disturbed by any type of metabolic disorder such as one of the Lysosomal Diseases storage, the organs of the bodyThey will not work so effectively. The patient's outcome includes a progressive decline in mental and physical abilities and will eventually result in death. In most countries, inherited metabolic disorders are considered relatively rare and scientists are looking for more effective ways to treat them.
Most specialists and doctors approach Lysosomal storage diseases with treatment for a specific disorder between known 49 existence. Bone marrow transplantation is used whenever possible, in patients with LSD and are considered to be the most effective when they are performed at the beginning of the disease progression. If possible, the medical community prefers this treatment when the patient is infant and less likely to suffer any complications of tissue rejection. Another type of treatment used in the treatment of lysosomal storage disease is the replacement of enzymupe (ER), which includes the use of defiSensitive enzymes administered through IV patient.
doctors have found that transplantation of hematopoietic stem cells is also useful in slowing the effects of lysosomal storage disease. Stem cells used for this treatment are found in the bone marrow, or in some cases are harvested from umbilical blood. This treatment not only gives the body healthy, functioning enzymes, but also provides healthy cells that will replace some of the lost or damaged. Not all treatment are effective in each type of LSD and careful analysis is necessary to adapt the proper treatment to the patient's needs.