Phenylketonuria is cured with food

• April 28, 2024

In the world there are about eight thousand diseases cataloged as rare, given its exceptional incidence (one in 20 thousand), and the impossibility of preventing them, as is the case of phenylketonuria .

Of these conditions, only 200 have been studied and have treatment, being one of the most recurrent phenylketonuria (PKU), which in Mexico City has been diagnosed by the National institute of pediatrics (INP) to 11 people, mostly babies and nationwide to almost 60 people.

For its part, the phenylketonuria consists of the accumulation of the amino acid of the phenylalanine in the blood , which produces neurological alterations that stop the development of the person at an early age and, although it is incurable, it is controlled as long as it is detected in time.

"The phenytoketonuria it is the best example of how a rare disease with correct and appropriate management can completely save the person. If you find patients from infants and are treated, they do not develop intoxication or disease and can be fully functional, "he said. Marcela Vela, head of the Laboratory of Inborn Errors of Metabolism and Sifter of INP .

A case of this type of suffering is that of Mimi, a girl who, having been born a week ago, began to vomit breastfeeding milk, was irritated and did not respond correctly to the stimuli around her.

The pediatrician said that everything was fine, but the result of the Neonatal sieve , a test that identifies alterations in the metabolism, which revealed that the small one had high levels of the amino acid phenylalanine and, after carrying out other tests, she was diagnosed with phenylketonuria 45 days after birth, a period considered as early detection.

The treatment for this disease is based on the control of food, because most foods, especially those of animal origin, as well as processed foods, sweets and beverages contain phenylalanine whose high concentration detonates this condition.

In the case of infants or small children, there is the so-called formula, a kind of milk that contains drugs to keep the amino acids level and, in turn, nutritionally substitutes proteins that can not be consumed directly.

For young people or adults there are medicines in tablets that allow regulation in your body, which must be accompanied by constant medical care and monitoring.

Children who are diagnosed with this disease and undergo treatment from birth, have excellent life forecasts, contrary to those who arrive untimely and care becomes palliative, because the damage caused by the disease at the neuronal level are irremediable.

What is a rare disease?

In the following VIS-A-VIS video, we explain what rare diseases are:

Within the framework of World Day of Rare Diseases, which is commemorated on February 29, the challenge to prevent late diagnoses of rare diseases from damaging the lives of small children is to detect them in time through the Neonatal sieve .

Video Medicine: Mothers, Babies and PKU (April 2024).