Is your child's metabolism working properly? (Let's learn about Inborn Errors of Metabolism)

Is your little one not gaining weight as expected? Or is he always tired and sleepy? Sometimes, behind these things, there may be a medical condition that we don't hear much about, but can be very important. Today we are talking about such a condition. That is the inborn errors of metabolism, or in medical terms, the condition called Inborn Errors of Metabolism (IEM) . Don't be afraid, even if the name is a little complicated, let's talk about it simply.

What is this 'metabolic process'?

Simply put, our body is like the engine of a car. The food we eat and drink is the fuel that powers this engine. Metabolism is the entire process of taking this fuel and turning it into energy, making the things the body needs to grow, and getting rid of waste products. When this is working properly, our body is healthy.

So, an inborn error of metabolism (IEM) is a small, inborn error somewhere in this engine, this metabolic process. This causes the body to be unable to properly convert certain foods into energy, or to be unable to remove harmful toxins from the body, which accumulate in the body.

What are the main types of IEM quality?

There are hundreds of such conditions. Each one is different. But let's be aware of a few of the most common types. These are usually named after the enzyme that is deficient in activity.

Why does this situation occur? Who does this happen to?

This is the most important thing. These conditions are caused by a genetic mutation . That is, it is not due to any fault on the part of the mother or father. It is caused by a very subtle change that occurs during the division of cells when a child is conceived.

The genes in our body instruct us to make proteins called enzymes that are necessary for metabolic processes. Think of these enzymes as the workers in our body. In the case of IEM, what happens is that due to that genetic defect, these workers do not receive the instructions to work properly.

What are the symptoms of this condition?

Symptoms can vary greatly from person to person and depending on the type of disease. Sometimes the symptoms can be very subtle, while other times they can be severe. Here are some of the most common symptoms.

• Growth failure: failure to gain weight or height.
• Appetite: The child's reluctance to eat or drink milk.
• Constant tiredness and sleepiness: The child is often lethargic and not active.
• Weight loss.
• Having a fit (seizures).
• Unusual odor from urine, sweat, or breath: For example, some diseases may have a sweet odor, while others may have a completely different odor.
• Stomach ache and vomiting.

Not every child with these symptoms has IEM, but if one or more of these symptoms persist, it is important to see a doctor immediately.

How to recognize this condition?

Fortunately, today, many of these diseases can be detected soon after birth. In some countries, these are detected through newborn screening. In Sri Lanka, these tests are also performed for some diseases.

The main tests used to diagnose the disease are:

• Blood and urine tests (Metabolic testing): These can detect abnormal chemical substances that have accumulated in the body.
• Genetic testing: A blood sample or saliva sample can help determine exactly which gene is defective.
• Amniocentesis: During pregnancy, a small sample of the amniotic fluid surrounding the baby can be taken to see if the baby has this condition.
• Eye exam: An eye exam may also be performed, as some IEM conditions can also affect the eyes.

How is it treated?

Treatment methods vary depending on the type of disease, but the main goal is to stop the body from absorbing things it can't handle and to remove toxins that have accumulated in the body.

1. Changing your diet: This is the main treatment. You have to completely eliminate foods that the body cannot process (e.g., certain proteins, fats) from your diet. This requires the advice of a nutritionist and a doctor.

2. Taking medicine: Enzyme replacement or medications that help remove toxins can be given to replace the body's deficient enzymes.

3. Dialysis: In some severe cases, toxins that have accumulated in the blood may need to be removed with the help of a machine.

4. Organ transplant: In very severe cases, a liver transplant may be necessary, for example.

When should I see a doctor?

If you are a pregnant mother, talk to your doctor about the tests that can be done for your baby.

If your child has any of the symptoms mentioned above, especially if there are any growth issues, be sure to see a pediatrician.

Most importantly: If your child has a seizure or is extremely lethargic, take them to the nearest hospital's Emergency Treatment Unit (ETU) immediately.

Living with these conditions can be challenging, especially when it comes to diet. But with the right medical advice and treatment, these children can live normal, happy lives.