Does your baby have this rare disease? Let's talk about Homocystinuria!

As a parent, you probably worry about the health of your little one. Sometimes it's normal to feel a little scared when you learn about rare conditions that we haven't even heard of. Well, today we're talking about a rare condition that many people haven't heard of, but is important to know about. Its name is Homocystinuria.

Simply put, what is Homocystinuria (HCY)?

Think about it, we know that the foods we eat, especially meat, fish, milk, and eggs, contain protein . This large protein is made up of small pieces called amino acids . Like building blocks. Inside a healthy person's body, these amino acids are broken down and digested, and become the energy our body needs.

However, in a person with Homocystinuria (HCY), the body cannot properly break down and digest an amino acid called methionine . This is called a metabolic disorder. When this happens, this methionine and another chemical called homocysteine, which is formed from it, begin to accumulate in the body, especially in the blood. This accumulation is dangerous. If left untreated, this can cause serious health problems.

Why is this happening? What is the reason for this?

A special enzyme in our body helps in the process of breaking down this amino acid called methionine. Think of this enzyme as a pair of scissors. These scissors cut the big thing called methionine into small pieces.

In a person with homocystinuria, this enzyme (scissors) is not produced in the body, or if it is produced, it does not work properly.

What symptoms can we see?

Surprisingly, when you look at a baby born with Homocystinuria, there is no difference. They are completely normal babies. Symptoms begin to appear within the first few years of life. Not all children experience these symptoms in the same way. Some children may have several of these symptoms, while others may not show any.

Pay attention to the characteristics in the table below.

How do doctors find this?

In many countries, a newborn screen is used to detect conditions like Homocystinuria early. This blood test provides an indication of whether the child is at risk of developing the disease.

If the results are abnormal, the doctor will recommend further specialized blood and urine tests to confirm the disease. In Sri Lanka, these tests are often ordered after symptoms appear and only after suspicions arise.

How is it treated? Is it something to be afraid of?

No, don't worry. The most important thing is to start treatment as soon as the disease is diagnosed.A metabolic doctor will help you with this. The treatment plan may vary from child to child.

There are two main treatment methods:

1. Vitamin B6 treatment

There is a less severe form of homocystinuria. It can be controlled by giving high doses of vitamin B6 supplements. Your doctor will test your child to determine if this treatment is right for them. This vitamin can help prevent behavioral and intellectual problems in some children, and can also help reduce the risk of eye, bone, and blood clot problems.

2. Special diet (Low-Methionine Diet)

If the child does not respond to vitamin B6 treatment, the next step is to start a diet low in methionine . This diet is often lifelong. It is essential to seek the help of a dietitian who specializes in amino acid disorders.

In addition, the doctor recommends a special formula to be given to the child instead of milk. This formula contains all the other nutrients necessary for the child's growth, with the methionine removed.

Also, the doctor may prescribe several other supplements.

• Betaine and folic acid: These reduce the levels of harmful homocysteine ​​that accumulates in the blood.
• Vitamin B12 and L-cysteine: These can be deficient due to the disease. B12 is given as a shot and L-cysteine ​​as a supplement.

To make sure the treatment is working, your child's blood and urine will need to be tested regularly. As your child gets older, you may need to make small changes to the treatment plan.

So, what should we think about the future?

The good news is that if treatment is started early and continued properly, the child can grow and develop normally . Proper treatment can also greatly reduce the risk of stroke, heart disease, and blood clots.

Sometimes, vision problems may occur despite treatment. But they can be managed with surgery or other methods. The most important thing is to maintain regular contact with your doctor and follow his instructions exactly.