June 28 is International Phenylketonuria Day. The date is marked by the awareness of the disease, which is classified as rare, genetic and hereditary, being generated by an inborn error of metabolism. Worldwide, data shows that phenylketonuria affects around one in 10,000 babies.
The condition is the body’s inability to process an amino acid called phenylalanine. Excess of this substance in the blood can exert a toxic action on several organs, mainly the brain. As a result, the child may develop symptoms such as convulsions, tremors, hyperactivity and lack of coordination between limbs.
The risks are worrisome, but phenylketonuria is treatable. And the most important part of this treatment is the early diagnosis of the disease, which can be done soon after the baby is born, with a well-known test: the foot test.
“Children do not show symptoms at birth, so it is necessary to do the heel prick test to be able to detect any genetic conditions. If the disease is detected early, it is possible to ensure that the patient has a normal life course, because it is a treatable disease, although there is no cure”, explains the neuropediatrician and professor at the FMABC University Center, Paulo Breinis.
The doctor also explains that the treatment is relatively simple, based on a diet indicated by a nutritionist or nutritionist. “Basically, to avoid symptoms and progression of the disease, it is necessary for the patient to avoid foods with a higher concentration of phenylalanine. This is why a nutrition professional is needed to adapt the diet to each patient,” says Breinis.
The professional points out that on this date it is important to remind everyone of the importance of the foot test, which is able to identify not only phenylketonuria, but also a series of other genetic diseases, such as congenital hypothyroidism, sickle cell disease and cystic fibrosis. . “It is important that parents continue to test their newborns, as discovering the disease at the right time is essential for effective treatment,” he concludes.
The Centro Universitário FMABC, in Santo André, has a care service for rare diseases which monitors patients with this disease and other genetic diseases. At the clinic, laboratory tests are carried out to check the course of the disease in each patient. The service is accessible on the recommendation of the Basic Health Units (UBS) of the ABC Paulista region.