Lysosomal storage diseases is a set of metabolic disorders that makes for the malfunctioning of lysosome
Lysosomal storage diseases (LSD) lead to the malfunctioning of lysosome. This is due to the deficiency of the individual enzyme needed to maintain the metabolism of the glycoproteins, lipids and mucopolysaccharides. Many of these conditions maybe autosomal recessive and some are recessive in the X-link. They can be inherited from hunter syndrome and Niemann-pick or the fabry disease.
Lysosome is very important for the body as it is the recycling cell center that makes the unwanted material useful by processing them into substance that can actually be help the body. There are certain enzymes present in the lysosome. This aids in breaking down the waster matter into proteins that is important for our survival.
It is this enzyme that is missing altogether or present in a very small amount. Lysosomal disorder causes this and this leads the waste material to gather up in the cell. The cell therefore is not able to work properly and the products that are supposed to break down are not recycled but get stored in the lysosome.
One can inherit these diseases genetically from their parents. There may be different mutations of the gene responsible for LSD. They may even share a similar biochemical feature. But all of them come to the same result, and that is the gathering of that substance in the lysosome.
Mostly children come under the effect of LSD and therefore they die at a very unpredictable age. This can range in few months or even just few years from the date of their birth. Between the years of survival, they face and live through the symptoms till their body cell house closes down.
The signs of lysosomal storage disease depend on the age of the child when he or she gets affected. The severity of the condition and even the development of the diseases come into account. Symptoms include seizures, deafness, dementia, blindness, delay in the condition to develop and even enlargement of livers in many. Cardiac and pilmonaru issues can arise and the bones may spurt abnormally with enlargement of the spleens.
Mutation analysis can ascertain the genes responsible for the Lysosomal storage disease. Particular screenings to check the presence of the enzyme is helpful to identify the condition. Biochemical methods of diagnosis are also credible to analyze the disorder.
There is no successful cure for the Lysosomal storage diseases. They are generally symptomatic and sometimes transplantation of the bone marrow and therapy of enzyme replacement can help. These days, transplantation of the umbilical cord blood can help in easing many of these diseases.
Certain therapies like the substrate reduction one are being analyzed to treat LSD. This helps in lessening the amount of the waste material that accumulates in the Lysosomal cell. To stabilize the enzyme that helps in breaking the elements, chaperone therapy is useful. Successive attempts to utilize gene therapy are experimented with to deal with this disorder.