Does your baby's urine smell sweet? Let's learn about this rare disease (Maple Syrup Urine Disease)

Imagine that when you change your little baby's diaper, or when you hold your baby, you notice a strange, sweet smell. Like maple syrup , or a sugary smell. Even if you don't pay attention to it at first, if this smell continues to come, it's normal for any mother or father to feel a little scared. In fact, this is the main and clearest symptom of the rare but very important to recognize early disease condition called 'Maple Syrup Urine Disease' (MSUD).

Simply put, this is a metabolic disorder. That is, there is a defect in the complex process that turns the food we eat into energy. We all know how essential protein is for our bodies. These proteins are made up of small building blocks called amino acids. In a person with MSUD, the body cannot properly break down three types of amino acids, namely leucine, isoleucine, and valine , and convert them into energy. This is because the enzymes needed for this process are not produced in their bodies. So what happens then? These unbreakable amino acids and their byproducts start to accumulate in the body and blood as toxins . These toxins can damage the brain and other organs. If left untreated, this condition can even lead to death. Therefore, it is very important to be aware of this.

Why does such a rare disease occur?

Maple syrup urine disease is a very rare genetic disorder . Worldwide, about one in 185,000 children are born with the condition.

This is caused by certain mutations in our genes. These genetic changes prevent the body from making the enzymes needed to break down the three amino acids we talked about earlier. This is a recessive genetic disorder . This means that for a baby to develop this disease, both the mother and the father must inherit the defective gene.

Imagine that you and your partner are both 'carriers' of this faulty gene. That means you don't have symptoms, but you have the faulty gene in your body. If so:

• There is a 25% chance that your baby will be born with MSUD.
• There is a 50% chance that your baby will be a 'carrier', just like you, who will have no symptoms but will carry the gene.
• There is a 25% chance that the baby will not inherit this defective gene at all and will be healthy.

Are there different types of this disease?

Yes, there are four main types of MSUD, which vary in severity and the time it takes for symptoms to appear.

What are the symptoms besides the smell of maple syrup?

As we mentioned earlier, the most obvious sign is a smell that smells like maple syrup or brown sugar. This smell can come from urine , sweat , and even earwax .

But there are many other symptoms besides this smell. These vary depending on the type of disease and the person.

Symptoms in newborns (Classic MSUD)

If left untreated, these babies may show symptoms like:

• Constant restlessness, irritability
• Difficulty or refusal to drink milk
• Sleeping abnormally or feeling depressed all the time
• Breathing difficulties
• Muscle spasms or body arching
• Coma

Symptoms in older children and adults

In the intermediate, sporadic, and thiamine-responsive types, symptoms can appear at any age. They may appear or worsen during periods of fever, illness, or stress.

• Stomach ache and vomiting
• Loss of appetite and weight loss
• Muscle weakness or loss of control when walking
• Involuntary movements
• Slurred speech
• Loss of consciousness or difficulty staying awake

How to diagnose the disease?

In many developed countries, newborn screening includes testing for MSUD. Therefore, the classic form can be identified within a few days of birth. In Sri Lanka, newborns are also tested for various diseases. Since this disease is very rare, not all babies may be tested for this disease.

However, a doctor may suspect the condition if they notice the baby's symptoms, especially the distinctive smell. Then, special blood and urine tests are performed to confirm the diagnosis. These tests can check for elevated levels of the problematic amino acids in the blood and urine. In some cases, genetic testing is also used to confirm the condition.

What are the treatments? Is it possible to cure it completely?

The main goal of treating this disease is to control the levels of harmful amino acids that accumulate in the body.

The main treatment is a special diet that must be followed throughout life. This involves limiting protein foods (e.g., meat, fish, eggs, dairy products, and some grains) that are high in the problematic amino acids (leucine, isoleucine, and valine). At the same time, other nutrients needed for growth are provided, such as specially formulated milk powders and food supplements. This diet plan is implemented under the close supervision of a doctor and a dietitian .

In cases where symptoms are severe, hospitalization is required and other treatments are used.

• Provide the body with the necessary nutrition by giving food through a vein (IVs) or special tubes.
• Control blood amino acid levels by administering glucose or insulin via IV.
• To quickly remove toxins that have accumulated in the blood, subject the blood to filtration (a method such as dialysis).

Maple Syrup Urine Disease, MSUD, Genetic Diseases, Pediatric Diseases, Metabolic Diseases, Amino Acids, Baby Urine Smell