Does anyone in your family have a rare genetic disease? Learn about Lysosomal Storage Disorders

Sometimes it is difficult for us to understand some diseases that come to someone in our family, especially a young child. When we go to a doctor, we are not familiar with some of the diseases he tells us. So, today we are talking about a group of diseases that many people have not heard of, but it is very important to know. These are called Lysosomal Storage Disorders. Although this name may seem a bit complicated when you hear it, let's understand it simply.

What exactly are lysosomal storage diseases (LSD)?

Okay, let's put it this way. Our bodies are made up of billions of tiny cells. Inside each of these cells is a special part called a 'lysosome.' Think of it as a 'garbage recycling center' inside the cell. Its main job is to break down, digest, and recycle things the cell doesn't need, such as proteins, carbohydrates, and old cell parts.

To do this important job, the lysosome has a special group of helpers. We call them 'enzymes'. These are special types of proteins. Like scissors, these enzymes help to break up and break down large things.

Now think about it, what happens if for some reason one of these enzymes is not produced properly in our body? Then the work of that 'recycling center' does not work properly. Those things that need to be broken down and digested, that is, things like proteins and fats, start to accumulate inside the cells. Like a garbage dump. Over time, these accumulated things become toxic to the cells, start to destroy the cells, and through that, damage various organs in our body. That is the condition we call a lysosomal storage disorder.

What are the main types of this group of diseases?

There are many types of diseases under this category. Each of them is caused by a deficiency of a specific enzyme. Let's look at a few of the most common types. Although the names of these may seem a little confusing, it's easy to understand once you know what they are.

Why do these diseases occur?

Many of these diseases are genetic diseases. That is, they are inherited from parents to children. This is how it happens.

Imagine that both parents have a 'weak copy' of the gene that produces a certain enzyme. But they don't show symptoms because they also have a 'healthy copy' of that gene. We call these people 'carriers'.

However, if a child inherits this weak copy of the gene from both the mother and father, then the child's body will not produce the relevant enzyme. That is when the child will develop the relevant lysosomal storage disease.

These are very rare diseases. However, some diseases are more common in certain ethnic groups. For example, Gaucher and Tay-Sachs diseases are more common in people of European Jewish descent.

What are the symptoms?

Symptoms depend on which enzyme is deficient, and therefore in which organs of the body the unwanted substances are stored. Therefore, the symptoms of each disease are different.

• Symptoms of Fabry disease include inflammation, pain, numbness, red spots on the skin, decreased sweating, and hearing loss in the limbs.
• Gaucher disease can cause an enlarged spleen and liver, easy bruising, bone pain, severe fatigue, and anemia (low blood count).
• Pompe disease causes symptoms such as severe muscle weakness, difficulty breathing, stunted growth in babies, and an enlarged heart.
• Babies with Tay-Sachs disease develop well for the first few months, but later lose muscle control. They may lose their eyesight and hearing, and have seizures.

How do you find out if you have these diseases?

Diagnosing these diseases is a somewhat complicated process, but early detection is very important.

1. Carrier Screening: Depending on your family history, your doctor may suggest genetic testing before marriage or during pregnancy. This can help determine if you or your partner are carriers of these diseases.

2. Tests during pregnancy: If an abnormality is detected during an ultrasound scan during pregnancy, the doctor may suggest testing the fetus.

• Amniocentesis: Genetic testing by taking a small sample of the amniotic fluid surrounding the mother's womb.
• Chorionic Villus Sampling (CVS): A small sample of cells is taken from the placenta and tested.

3. If a child has symptoms: A blood sample from the child can be tested to check enzyme levels. In addition, other tests such as an MRI scan, biopsy, or urine test may be done.

What are the treatments for this?

There is no cure for these diseases yet. However, there are several treatments that can control symptoms and increase life expectancy and quality of life.

• Enzyme Replacement Therapy (ERT): This involves giving the body's deficient enzyme directly into the body through a vein (IV).
• Substrate Reduction Therapy (SRT): This involves administering medications that reduce the production of unwanted substances that accumulate inside cells.
• Stem Cell Transplant: Stem cells taken from a healthy person are transplanted into the patient, helping the body produce the enzyme it needs.
• Symptom management: Symptoms are controlled with treatments such as pain medication, physical therapy, surgery, and in some cases, dialysis.

In addition, research is underway into modern treatments such as gene therapy, which may provide a more permanent solution in the future.

Let's learn about living with these diseases.

These are lifelong diseases, so along with treatment, it is very important to make lifestyle changes.

• A good diet: Talk to your doctor and a dietitian to create a balanced diet that suits you.
• Reduce your risk: These diseases can increase your risk of developing other diseases. For example, it is very important for someone with Fabry disease to control their cholesterol levels.
• Stay active: Ask your doctor about safe exercises that are suitable for your body.
• Mental health: Living with a long-term illness like this can be mentally challenging. Seek help from a psychologist or counselor. Also, joining support groups with people with similar illnesses is a great help.

Lysosomal Storage Disorders, Genetic Diseases, Enzymes, Fabry disease, Gaucher disease, Pompe disease