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A hidden disease in children: Why do lysosomal storage diseases make life so fragile?
Lysosomal Storage Diseases (LSDs) are a group of more than 70 rare inherited metabolic disorders that are caused by defects in lysosomal function. Lysosomes act like recycling factories within cells, digesting large molecules and delivering the fragments to other parts of the cell for reuse. This process requires several key enzymes. However, when an enzyme becomes defective due to mutation, large molecules accumulate inside the cell, eventually leading to cell death.
Lysosomal storage diseases are usually caused by a single enzyme deficiency, and most of these diseases are inherited in an autosomal recessive manner.
Although each lysosomal storage disease occurs in no more than 1 per 100,000 births, the incidence of these disorders as a group is approximately 1 per 5,000 to 10,000 births. Lysosomes are often called the recycling centers of cells, converting excess material into something the cell can use. When lysosomes function abnormally, a large amount of substances that should be degraded and reused are often stored in the cells, leading to the occurrence of various pathological phenomena.
Symptoms of lysosomal storage diseases can vary, depending on the disease and the age at which they appear. They can range from mild to severe. Symptoms include developmental delay, movement disorders, epilepsy, dementia, deafness or blindness. Some children may have an enlarged liver or spleen, lung and heart problems, and abnormal bone growth.
Most of these diseases begin in early childhood, and many patients die within the first few months or years of life.
Diagnosis and treatment
The process of diagnosing lysosomal storage diseases often begins with enzyme screening, which is the most effective way to confirm a diagnosis. Mutation analysis may be performed in certain families or genetic isolates in which the disease-causing mutation is known. In addition, after the diagnosis is confirmed, mutation analysis can be performed for some diseases to further confirm it.
While there is no known cure, targeted therapies can reduce symptoms and prevent lasting damage in some cases.
For treatment, bone marrow transplantation and enzyme replacement therapy (ERT) have been tried with some success. These treatments can relieve symptoms and reduce permanent damage to the child's body. Additionally, cord blood transplants are performed in specialized centers for certain conditions. Furthermore, substrate reduction therapy and concomitant therapy are being evaluated in several specific lysosomal storage diseases.
In recent years, Ambroxol has been shown to increase the activity of the lysosomal enzyme glucosylase, making it a promising drug for the treatment of Gaucher's disease and Parkinson's disease. One of the mechanisms of action of this type of drug is to promote the secretion of lysosomes from cells, thereby reducing the accumulation of metabolites in cells.
History Review
The study of lysosomal storage diseases dates back to 1881, when scientists first described Gaucher disease, followed by the discovery of Geisel disease in 1882. In the 1950s and 1960s, De Duf and others used cell segmentation techniques, cytological studies, and biochemical analyses to identify and characterize lysosomes as organelles that digest and recycle macromolecules within cells. This groundbreaking discovery leads to a deeper understanding of the physiological basis of lysosomal storage diseases.
As medical research continues, we are learning more and more about the root causes of these diseases and potential treatments. This provides hope to many families facing the challenges of these hidden diseases. In the future, will we find more effective means to address this range of mysterious and painful diseases?
