Is your baby always tired? Does he have a bad appetite? Let's learn about this MCAD Deficiency?

Is your little one always tired and sleepy? Does it get very difficult even if he catches a cold or misses a meal? Does he vomit or lose his strength at such times? Perhaps there is a medical condition behind these things that we don't talk about much, but it is very important to know. That is one such condition called MCAD deficiency. Today, we will talk about this very simply, in a way that you can understand.

Simply put, what is MCAD deficiency?

Think of our body as a car. A car needs fuel to run. In the same way, our body needs energy to do its work. We get this energy from the food we eat. Our main sources of energy are carbohydrates (starches) and fats.

Normally, our bodies use carbohydrates first for energy. But when we go hours without eating, or when we are unable to eat due to illness such as fever or vomiting, our bodies start using fat as a secondary source of energy.

There is a special enzyme in our body that converts this fat into energy. It is called Medium-chain acyl-coenzyme A dehydrogenase . This enzyme helps to break down the medium-chain fatty acids found in the food we eat and in our bodies and create energy.

In a child with MCAD deficiency , the body does not produce enough of the special enzyme I mentioned. That means there is a deficiency in it. So what happens is that if this child goes without eating for a long time, his body cannot use fat to generate energy. Because of this, the body's energy suddenly decreases, and the child finds himself in a difficult situation.

How does this condition occur? Is it genetic?

Yes, this is a completely genetic condition . That means it is inherited from either the mother or the father. The cause of this is a mutation in the gene called `ACADM`.

This is inherited in an 'autosomal recessive' pattern. I'll explain what that means simply.

Imagine that both parents have one healthy copy of the `ACADM` gene, and the other copy has a small change (mutation). But because they have one healthy copy, neither parent shows any symptoms. They are called ``carriers.''

When a couple of carrier parents like this have a child,

• There is a 25% chance that a child will develop this condition (if they inherit the mutated gene from both their mother and father).
• There is a 50% chance that the child will be an asymptomatic carrier, just like the parents.
• There is a 25% chance that the child will not inherit this mutated gene at all and will be a completely healthy child.

What are the symptoms of MCAD deficiency?

These symptoms usually appear during infancy or early childhood, especially when the child is ill with fever or vomiting and is unable to eat, or when the gap between meals increases.

Let's separate these symptoms into two types.

How do doctors diagnose this disease?

The best part is that many diseases like MCAD deficiency can be detected early through newborn screening , which is done a few days after a baby is born. This test is done with a few drops of blood taken from the heel of the baby a few days after birth.

This means that the child can be diagnosed with this condition before they even show any symptoms. This is something that could save their life.

If the newborn screening raises suspicion about this condition, the doctor will order further tests to confirm it.

• Genetic testing
• Blood and urine tests

After confirming the disease, the doctor will provide the child with the necessary treatment and advice.

What are the treatments for this? How to care for the child?

Treating MCAD deficiency mainly involves managing the child's diet . The most important thing here is to maintain the child's energy levels. That is, the child should not go for long periods without eating .

Here are some key points to consider during treatment and management.

• Provide frequent meals: Don't let your child go hungry for hours. In addition to the main meals, you should provide snacks. It is not good to go without eating for a long time, even at night. When your child is young, you may have to wake him up at night to give him some milk and food.
• Foods rich in carbohydrates: Include starchy foods like rice, bread, potatoes, sweet potatoes, and grains in your child's diet. These provide the body with the energy it needs easily.
• Limit high-fat foods: This doesn't mean cutting out fat completely, but it's a good idea to limit things like high-fat, fried foods.
• Carnitine supplements: Some children may be given a supplement called ``Carnitine'' by their doctor. This helps the body convert fat into energy.

What do you do when you are sick?

This is the most important thing. If a child with MCAD deficiency develops an illness like fever, vomiting, or diarrhea, it is very dangerous. Because at that time the child will not eat, and the body's energy will decrease quickly.

Sometimes, if a child has to undergo surgery, they will need to fast before the procedure. In such cases, the doctor will admit the child to the hospital and give them glucose saline (IV fluids) to keep them hydrated.

When should I see a doctor? When should I go to the ETU?

If your child has been diagnosed with MCAD deficiency, see your doctor immediately in the following situations:

• If the child is not eating normally or is skipping meals.
• If the child has a fever, continues to be excessively sleepy, or appears lethargic.
• If the child continues to vomit.

When to go to the Emergency Treatment Unit (ETU) immediately:

• If your child has a seizure, take them to the nearest hospital emergency room (ETU) without any further ado. A seizure is one of the most serious complications of this disease.

Can a child with this disease live a normal life?

Absolutely yes! That is the most important and satisfying thing here. If this disease is detected early through Newborn Screening at birth and the diet is managed exactly as instructed by the doctor, most children can live a completely healthy, normal life without any complications.

However, if this disease is not diagnosed, that is, if it is not treated when the symptoms appear, between 20%-25% of children can develop long-term disabilities or even death. That is why newborn screening and early detection of the disease are so important.

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