Save in particles: causes, symptoms and treatment

Lysosomal storage disorders under the protection that include storage in the condition of the condition are about 40 different genetic diseases transmitted by autosomal recessive, and a romantic X is associated with it, while the rest of the physical chromosome diseases are considered. The term storage in the particles was introduced in the 1960s by the Belgian researchers, of Hove and Herv’s. Case particles (lysosome) are distinctive ingredients in the cells in which the analysis of complex materials begins, such as: protein, multiple sugars and compound fats in separate units of composite materials. In these diseases, a specific substance is stored in these particles, or several substances with similar chemical properties, and the storage of complex materials often comes to a defect in the mechanism of their analysis in the status particles. Due to this imbalance, particles are filled with materials that cannot be analyzed, and therefore cannot be removed from the particles. In this case, the cell content is filled with large enlarged particles, and this phenomenon, in addition to building up the accumulated material, leads to the rise of different diseases, in a number of these diseases, the storage of particles is a single and small units caused by a defect in the process of removing it from the particles after the composite materials are analyzed. Classification of diseases depends on the features and composition of materials stored in patient particles, and there are 9 different groups of these diseases, each characterized by the stored material building, or the basic mechanism that leads to the accumulation of these materials in the status particles. For example, a group of many mucopolysaccharidosis is stored in certain complex sugars, or a group of fatosis in which different types of complex fats are stored. In each of these groups, a number of different diseases were identified, and we meant by different diseases to develop different genes and not infect the same gene, from the sharp form to the lighter form. A portion of these diseases are spread through a relatively high rate in different ethnic groups in the world, and in these cases for the purpose of preventing these diseases, it is advised to scan checks to identify the containers of this disease between the population and the discovery of families who are at risk of developing the disease before the birth of their first sick children. Symptoms of storage in the particle condition The clinical symptoms of these conditions differ from one group to another according to the nature of the tissue affected by storing materials and the extent of poisoning of accumulated materials, and despite the differences in clinical symptoms, there are some common symptoms of the majority of these diseases. Easing the symptoms of the disease from the beginning of the first appearance can be the development of the disease fast and sharp, or last for a longer period, but the average age is short according to the majority of the majority. Generally, acute forms are embodied in the majority of diseases in the early life stages. As for the minor disorders whose symptoms begin to appear at the end of the first decade of the patient’s life or in the middle of the second decade, it is characterized by the rise of the first symptoms in the late stages, and the disease develops slowly. In general, the most important symptoms of storage in the particles in children are the following: Spiritual and physical backwardness. Epilepsy attacks. Facial and bone disorders. Pain and hardening in the joints. Problems with breathing. Hearing and vision problems. Bleeding. Flatulence, spleen and liver. Learning difficulties. Hyper movement. In all groups of diseases, simple cases are described, and other very severe cases correspond to the type of mutation in the gene, and the mutations that lead to a complete decrease in protein production appear in the form of more serious diseases, while the mutations leading to the production of protein with sustainable effectiveness, even if their percentage is small compared to the usual level. Causes and factors of the risk of storage in the particles. Store in the conditional particles due to the presence of a genetic mutation that develops during pregnancy, and children can inherit the gene of one or both parents. The contaminated no regulates a certain enzyme in the condition bodies, while in the case of mutations, or is not enough to treat excess substances, and when these substances accumulate in harmful amounts, the cells stop and die. The complications of storage in the conditional particles. There are no complications installed for storage in the particles, but it often cannot treat the symptoms, the most important of which is: mental disability. Muscle and bone weakness. Diagnosing storage in the particle -condition can diagnose the disease before the governors or during the first periods after birth, and after the physical examination, the doctor may request the following tests: 1. Examination of enzymes is performed a sample of blood or urine to find out the enzyme of the enzyme in the body. 2.. The genes examination is taken by a sample of the breasts or placenta cells to detect the presence of the disease in the event of a family history of infection, and the investigation can be performed for newborns running the risk of developing the disease. Treatment of storage in the conditional particles has increased the number of current experiments to treat these diseases over the past few years, and one of the most important treatments used is the following: 1. The bone marrow transplant was found to help reduce bone marrow transplanting that affects mental delay that affects children in the event of the transplantation before the child. But it has no significant influence on bone and muscles. 2. Treatment of the missing enzyme alternatives shows that the promising and successful results were caused by the treatment of patients with regular incomplete enzymes, such as: Gaucher disease, fabry disease, but no successful and safe way to enter the incomplete enzyme of the brain tissue, and from here. The imiglucerase injection was approved by the US Food and Drug Administration (FDA) in April 1991, a derivative injection of the placenta to treat Type 1 -Gush, and studies are still treating the second and third types of disease using this medicine. Prevention of storage in the particles. This disease is hereditary, so there are no ways to prevent the disease.