1 in every 47 thousand children born in the country each year will suffer from Maple Syrup Disease, a hereditary disease caused by a deficiency in the patient of the enzyme that is necessary to break down certain branched chain amino acids (leucine, isoleucine). and valine) in the body.
The lack of this enzyme causes the levels of these amino acids to accumulate in the blood and urine, which causes a series of serious health problems in the patient as it poisons the body’s cells.
Worldwide, Maple Syrup Disease has a prevalence of 1 in 89 thousand human beings.
Dr. Manuel Saborío, doctor and pediatrician specializing in rare diseases, explained that, in Costa Rica, there has been an increase in the births of children with this condition, reaching levels of between 1 and 2 births with this disease each year.
According to the specialist, the symptoms of Maple Syrup Disease can include vomiting, lethargy, developmental delay, neurological problems, seizures and even coma.
“This disease is inherited to children from their parents. For it to occur, both parents have to have a mutation in one of their genes related to this condition. They pass that gene on to their children. Only in this way is the disease manifested,” mentioned Dr. Saborío.
The disease can manifest itself in four states. The first is the classic form, when the enzyme has 2% activity in the patient. The second is the late infantile form, which does not necessarily appear in the newborn stage of the boy or girl, but in the following months.
The third is the late stage, which manifests itself in patients between 15 and 18 years of life. Finally, the fourth is what is known as Responders to Vitamin B1 or Thiamine. This is when patients can take Thiamine as a treatment to reduce symptoms.
“The most efficient way to detect this disease is neonatal screening. With this procedure, each of the four forms of manifestation of the condition can be detected. Screening is carried out between the first 48 and 72 hours of the newborn and what it detects is which of the analytes that may be altered. The equipment has great sensitivity and specificity, which allows greater accuracy in the results, allowing early forms or variables,” mentioned Dr. Saborío.
Special amino acids
Dr. Saborío pointed out that the treatment to be applied to patients will depend on the way in which the disease manifested itself in each of them. However, treatments usually involve a special low-protein diet and specific amino acid supplements, plus regular medical monitoring to control amino acid levels in the blood.
However, he added, as these are essential amino acids, they cannot be eliminated 100% from the patients’ diet since it would be incompatible with life. Due to this, what is done is to analyze the capacity of each person’s body to withstand amino acids without them becoming toxic. Therefore, the treatment is 100% individualized, adjusting the diet according to the characteristics of each patient’s condition so that it allows them to meet the growth and development requirements, but, at the same time, have a healthy life according to their enzymatic activity. .
Another treatment is specific for the group of Vitamin B1 Responder patients, who are supplemented with Thiamine.
A third possibility to treat this disease is liver transplant. “99% of the metabolism of these proteins occurs in this organ. If a transplant of 40% of the liver is performed, the patient can recover the activity of the enzyme, as if the patient had not been sick; However, there are still certain limitations to this option. One is that this procedure cannot be performed on a newborn until at least one year old, so the treatment with the special diet must be followed during that time. Another is that we have to wait, once the transplant has been performed, if the patient manages to recover this functionality,” explained the specialist.
He added that patients with the condition can live a normal life, both for their physical and intellectual development, as long as they follow their treatment and diet, so they should not see this disease as a reason for limitation.
Patient support
A very important task for the well-being of patients with Maple Syrup Disease is to obtain modified nutritional products that have a protein contribution that does not contain the dose of amino acids that could poison these patients. Additionally, you should also look for products with other components that allow the patient to meet all the other needs of amino acids, proteins, fats, and vitamins that the patient needs to grow and develop.
It is in this line where organizations such as the Costa Rican Association for the Screening and Prevention of Disabilities in Children (ASTA), a non-profit organization, take on great importance. Since its foundation, it has focused its social work to support the personal development and care of children. patients with rare diseases.
Andrea Rojas, general director of ASTA, commented that, within the work towards patients with Maple Syrup Disease, ASTA carries out social action through the acquisition of special foods and supplements that patients require to be able to lead their lives, and distributes them among them according to their special dietary needs.
Rojas added that, additionally, the organization holds workshops to raise awareness among patients and their families that, although they can lead a normal life, they must adhere to their treatments and diets, since a lack of control could cause episodes that, if poorly controlled, could cause them. cause death.
“In Costa Rica, the union of efforts led by ASTA and other key actors is making a difference, offering hope to those who face unique challenges in their health journey when suffering from rare diseases. With community support, these initiatives continue to open pathways to a full and meaningful life for those fighting rare diseases in the country. Although these diseases are classified as ‘rare’, patients can achieve quality of life and develop normally, complying with their treatment and care. There is an after-detection of the conditions, and that is where ASTA does a great job to support these patients and their families. Patients with rare diseases are patients who are not discharged, but rather must be accompanied for the rest of their lives. Thanks to the work of ASTA, it has been possible to increase the life expectancy of patients. Also, for this reason, it is very important to increasingly promote early detections and education on this issue, to reduce the consequences in people who suffer from them,” concluded Rojas.
Fountain. ASTA and ASTA Lab
