Does your baby smell like maple syrup? Let's learn about this dangerous disease (Maple Syrup Urine Disease)

Does your newborn's body or urine smell strangely sweet, like maple syrup? You might think it's normal. But it could be a sign of a serious condition that should never be ignored and requires immediate medical attention. This condition is called maple syrup urine disease, or MSUD for short. Today, we'll talk about it in a simple, easy-to-understand way.

What exactly is maple syrup urine disease (MSUD)?

Simply put, Maple Syrup Urine Disease (MSUD) is a genetic condition that is present at birth, lasts a lifetime, and can be life-threatening if not treated properly. It is a metabolic disorder. A metabolic disorder may sound complicated to you. But it is very simple. It means that there is a problem in the process by which our body converts the food we eat into energy.

In MSUD, our bodies are unable to properly break down certain amino acids, the building blocks of protein, and convert them into energy. This problem occurs with three amino acids in particular:

• Leucine
• Isoleucine
• Valine

In people born with MSUD, these three amino acids are not broken down properly in the body, so they accumulate in the body to toxic levels. This toxic state is the main symptom of the disease, which is the smell of maple syrup or burnt sugar in the urine , earwax, and sweat.

What are the main types of MSUD?

MSUD can be divided into four main types. Not all types are the same. Some are very severe, while others are a little less severe.

Is this disease common?

No. MSUD is a very rare disease . Worldwide, it affects only about one in 185,000 babies born.

However, this disease is more common among some ethnic groups. This is especially common among people from the same family or lineage, that is, people who marry close relatives. This is because the gene that causes this disease is more prevalent in those communities.

What are the symptoms of MSUD? ​​How to recognize an emergency?

It is very important to be aware of the symptoms because it helps to start treatment quickly.

Imagine a mother with a newborn baby who notices a strange, sweet smell when changing her baby's diaper or cuddling her. At first, you might not pay attention to it. But after two or three days, the baby can't even drink milk, cries all the time, and seems lethargic. This is when you need to quickly think that this is not normal.

If left untreated, this condition can progress to a metabolic crisis, a very dangerous emergency.

Even in children and adults diagnosed with MSUD, this type of metabolic crisis can be triggered by something like an infection, an accident, or severe stress. So it's important to always be aware of this.

Why does this disease occur?

MSUD is caused by a genetic mutation , which is inherited from parents to children.

Simply put, our bodies need a special type of enzyme to break down the amino acids we talked about earlier: leucine, isoleucine, and valine. Our genes instruct us to make these enzymes.

A person with MSUD has a mutation, or defect, in these genes that provide instructions. This causes:

• The relevant enzyme may not be produced at all in the body.
• Or, not enough enzymes may be produced .
• Sometimes, even though enzymes are produced, they may not function properly .

Whatever the reason, what ultimately happens is that those three amino acids accumulate in the body and reach toxic levels.

How is this disease inherited?

This is inherited in an autosomal recessive pattern . This sounds like a complicated word, doesn't it? Let's keep it simple.

For a child to develop this disease, both the mother and father must be carriers of the defective gene. A carrier means that the person has both a good copy and a defective copy of the gene in their body. Carriers do not develop this disease. This is because the good copy of the gene makes the necessary enzyme.

However, if both parents are carriers, the child may inherit the defective gene from both the mother and the father. Only if both defective genes are inherited will the child develop MSUD.

What are the possible complications of this disease?

Toxins that accumulate in the body can damage several of our organ systems. If left untreated or not managed properly, the following complications can occur:

• Brain damage , nervous system problems, and developmental delays.
• Increased risk of mental health conditions such as attention deficit hyperactivity disorder (ADHD), anxiety, and depression.
• Decreased bone mass ( osteoporosis ), which can cause bones to break easily.
• Inflammation of the pancreas ( pancreatitis ), especially when there is a metabolic crisis.
• Chronic headaches caused by increased pressure in the skull.
• Movement disorders such as tremors and uncontrolled muscle contractions.
• Coma and even death can occur due to infection, stress, or poor diet.

How to diagnose the disease? (Diagnosis)

Classic MSUD is usually diagnosed during newborn screenings, which are blood tests.

Additionally, tests can be done during pregnancy to determine if the baby has the disease. This can be done by taking a small sample of the placenta ( chorionic villus sampling ) or testing the amniotic fluid around the baby ( amniocentesis ).

Children with other types of MSUD may not show symptoms in early childhood. Symptoms may not appear until several years later. At that time, the doctor will confirm the disease through blood tests and genetic testing . Also, the special sweet smell coming from the child's body is a big clue to the disease.

What are the treatments for MSUD?

Although there is no cure for MSUD, it can be managed well and a normal life can be achieved. Treatment has two main goals:

1. Controlling the levels of those three amino acids in the body.

2. Provide emergency treatment if a metabolic crisis occurs.

1. Diet

This is the most important part of managing MSUD. The patient has to follow a very strict diet for the rest of their life. That means limiting protein-rich foods. Because those three problematic amino acids are found in protein.

A newborn baby is given a special type of milk powder that does not contain these three amino acids, but contains all the other nutrients.

It is essential to work with a nutritionist to develop a safe and healthy diet plan that is appropriate for each patient.

2. Constant monitoring

A patient with MSUD must be under medical supervision for the rest of their life. Blood and urine tests are performed regularly to check the amino acid levels in the body. The diet is adjusted based on the results.

3. Emergency treatment for metabolic crises

If you develop symptoms of metabolic crisis, you should be hospitalized immediately. At the hospital, the medical team may provide the following treatments:

• Amino acid levels are controlled by administering intravenous (IV) glucose and insulin.
• Necessary, but harmless, nutrients are given to the body through a nasogastric tube or IV.
• Hemodialysis is performed to remove toxic substances from the blood.
• Complications such as brain swelling are regularly checked and necessary treatment is provided.

Can this disease be cured with a liver transplant?

Yes. This is the best hope for MSUD patients. A liver transplant can successfully cure classic MSUD.

The reason for this is that the enzyme that breaks down the problematic amino acids is produced mainly by the liver. So when a healthy liver is transplanted, that liver produces the necessary enzyme. After that, the patient can live a normal life without any dietary restrictions or symptoms.

However, a liver transplant is a major operation. It has risks. It also requires lifelong immunosuppressants to prevent the body from rejecting the new liver. However, this method has brought many people better results than living with MSUD.

Is there a way to prevent this disease?

Because MSUD is a genetic disease, it cannot be completely prevented. However, the risk of a child inheriting the disease can be reduced.

If someone in your family has MSUD, it is important to talk to your doctor about it before you have a baby. You and your partner can get a genetic test to see if you are carriers. If you are both carriers, you can talk to a genetic counselor about your risk of passing the disease on to your child and what steps you can take to prevent it.