Does your child have these strange symptoms? Let's learn about long-chain fatty acid oxidation disorders (LC-FAODs).

Does your little one get tired after playing for a while? Or does he always seem sick, not wanting to eat, or sleepy? Sometimes we think these are normal things, but behind this could be a very rare, but very serious genetic condition. Today we are talking about one such condition, Long-Chain Fatty Acid Oxidation Disorders, or LC-FAODs .

Simply put, what are these LC-FAODs?

This is a bit of a complicated name, but let's keep it simple. Our body is like a vehicle. It needs energy, or fuel, to work. The food we eat is the fuel for our body. The process by which this food is converted into energy is called metabolism .

The foods we eat, such as olive oil , fish , avocados, and meat, contain something called 'fatty acids'. These are a good source of energy for the body. There are several types of these fatty acids. Among them, the type called 'long-chain fatty acids' requires a special enzyme to convert them into energy.

Children born with a genetic condition called LC-FAODs lack that particular enzyme in their bodies. So their bodies can't convert these long-chain fatty acids into energy.

What happens then?

1. Vital organs like the heart , brain, liver , and muscles do not receive the necessary energy.

2. Fatty acids that cannot be converted into energy accumulate in those organs and begin to damage them.

This can lead to serious complications such as heart disease , liver failure , and severe low blood sugar levels . Therefore, it is very important to diagnose this disease early and maintain proper diet control .

What are the symptoms of this disease?

Symptoms can vary from person to person. It depends on the type of enzyme that is missing and the severity of the condition. Some people may not show any symptoms until adolescence or adulthood. But in severe cases, symptoms may begin to appear within the first few months of life.

The first signs of heart muscle disease in newborns are ``cardiomyopathy``. This includes difficulty breathing, difficulty feeding, and excessive sleepiness. Infants and young children may show early signs of liver problems, such as yellowing of the eyes and skin (jaundice), and low blood sugar levels (hypoglycemia).

Let's take a look at the main conditions that can occur in this regard and what are the symptoms associated with them.

What causes this disease?

This is a completely genetic disease . That is, it is inherited from parents to children. Simply put, the cause is a mutation in the gene that instructs the production of the enzyme that breaks down fatty acids that we talked about.

For a child to have the disease, they must inherit a copy of the defective gene from both parents . If they inherit it from only one parent, the child is a ``carrier''. They will not have symptoms, but they can pass the gene on to their children.

This is not a contagious disease. It cannot be transmitted from one person to another in any way.

How to diagnose the disease?

In many countries, every newborn baby is screened for these genetic diseases. This is done with a small blood sample taken from the heel within 1-2 days of birth. If this test gives a hint of the disease, further tests are done to confirm the disease.

The main tests performed for this are:

• Blood and urine tests: These check for abnormally high levels of fatty acids and other substances in the blood and urine.
• Genetic testing: This is the only way to definitively determine whether you have LC-FAODS and, if so, which type.

If your child has the symptoms we discussed earlier, it is very important to see a pediatrician immediately to discuss this.

How is it treated?

Although this disease cannot be completely cured, with proper management , serious complications can be avoided and a normal life can be led. The main treatments include dietary changes, special nutritional supplements, and lifestyle changes.

1. Diet

This is the most important thing. This diet should be prepared under the advice of a dietitian.

• Limit foods high in long-chain fatty acids: Foods such as meat, some vegetable oils, nuts, and fish should be limited.
• Eat more carbohydrate-rich foods: To gain energy, you should include foods rich in carbohydrates like rice, potatoes, and sweet potatoes in your diet.
• Eat small, frequent meals: It is important to eat at regular times throughout the day to keep blood sugar levels stable.
• Avoid fasting: It is not good to go hungry for more than 8 hours.

2. Nutritional supplements

Because these patients cannot use long-chain fatty acids, they are given another type of fat that the body can easily convert into energy. These are called medium-chain triglycerides (MCTs) . These are available as MCT oil. These MCTs are also added to some infant formulas. Your doctor will give you more information about this.

3. Medicine

A drug called Triheptanoin (Dojolvi) is approved for LC-FAODs. It is available only with your doctor's prescription .

4. Lifestyle changes

It is important to avoid triggers that aggravate symptoms.

• Avoid excessive exercise: Limit activities that make the body feel overly tired.
• Manage stress: Things like yoga and meditation can be helpful.
• Protect yourself from illness: Get all the vaccinations your doctor recommends on time. Seek treatment promptly for even a minor cold or fever.

Is living with this disease a challenge?

Of course, yes. This is a lifelong condition that needs to be managed. You need to be careful about your diet. You need to know what to do in an emergency. This can be mentally stressful for both the child and the parents.

Therefore,

• Learn about the disease well: knowledge is the greatest power.
• Seek psychological support: Don't hesitate to seek help from family, friends, or a mental health counselor.
• Stay in touch with your doctor: Ask him or her if you have any questions or concerns.

Although this disease is rare, with proper management and care, the child can have a good life. The most important thing is to diagnose the disease early and follow the doctor's instructions.