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Did you know that more than 70 rare diseases are all caused by the deficiency of an enzyme?
In the medical community, we are surprised by the possible consequences of enzyme deficiency. Rare diseases are like an inaccessible fog. Their existence is often difficult to detect, but once we understand them better, we can see the connections between them. These are collectively known as "Lysosomal Storage Diseases (LSDs)", which is actually a group of diseases caused by enzyme deficiency, with a total of more than 70 types.
"Lysosomes are known as the recycling center of the cell, responsible for digesting large molecules and sending their fragments to other parts of the cell for recycling."
The root cause of these diseases lies in the lack of lysosome function. These small organelles contain a variety of enzymes. If a genetic mutation causes the loss of a certain enzyme, waste in the cell will accumulate and cannot be broken down normally, which will eventually lead to Cell death. Although the genetic mutations in each disease vary, a common biochemical feature is the abnormal accumulation of material inside lysosomes.
Classification of lysosomal storage diseases
Lysosomal storage diseases can be roughly divided into several categories based on the characteristics of the main storage materials:
- Lipid storage diseases
- Cartilage glycoprotein storage disease
- Mucopolysaccharidoses, such as Hunter syndrome and Haller syndrome
- Glycogen storage diseases, such as Pompe disease
- Cystinosis, a lysosomal storage disease caused by abnormal accumulation of cystine
Different types of lysosomal storage diseases have different symptoms and manifestations. These symptoms may include developmental delays, movement disorders, epilepsy, dementia, hearing loss, and visual impairment.
"There is currently no cure for lysosomal storage diseases, and most treatments are symptomatic."
Diagnosis and Treatment
For the diagnosis of lysosomal storage diseases, enzyme assays are often used as initial screening, which is the most effective way to confirm the diagnosis. Gene mutation analysis can also be performed in some families with known genetic mutations. In terms of treatment, although there is no known treatment that can completely cure these diseases, bone marrow transplantation and enzyme replacement therapy (ERT) have achieved some success in some cases. With ERT, symptoms can be reduced and permanent damage to the body prevented.
"Exploring the potential of gene therapy may offer hope for future treatments."
With the advancement of medical technology, methods such as substrate reduction therapy and companion therapy are also being evaluated for certain diseases, hoping to achieve relief or even treatment effects. Recent studies have shown that the compound drug Ambroxol may enhance the activity of an enzyme called glucoadenosylase, which may have potential application value in the treatment of some lysosomal storage diseases.
Historical background
The history of research into lysosomal storage diseases dates back to 1881, when Tay–Sachs disease was first described, and in 1882, when Goff's disease was described. With the development of science and technology, more and more lysosomal storage diseases are recognized and understood. These diseases reveal how cells process and recycle macromolecules, which is a major advancement in modern cell biology.
"While the individual effects of each disease are different, they all stem from the same underlying cause - a lack of enzymes."
This makes us understand more clearly that our bodies rely to some extent on these tiny workers-enzymes. When these key ingredients are missing, what risks will our health and lives face?
