Patients suffering from phenylketonuria will be able to count on the medication available in the Unified Health System (SUS). The announcement was made by the Ministry of Health on January 3.
The drug sapropterin dihydrochloride , used as a treatment in conjunction with a diet, will only be released to female patients who are in the preconception or gestational period, and who have obtained positive responses to the use of the drug.
If the patient needs to pay for the medicine, the amount to be disbursed may exceed 4 thousand reais. For this reason, the news can be a relief to people with the disease.
The use of sapropterin dihydrochloride should be indicated and supervised by a doctor. Being administered during the meal, the absorption of the medication by the body is greater after eating, and the dosage varies according to the patient’s age.
In order for the drug to be part of SUS, discussions were held with health professionals and tests to verify whether the substance is effective and safe. The results were more positive in women. Suggestions from patients and family members of the disease were also observed.
Entenda for phenylacetonuria
Phenylketonuria has a genetic origin, that is, father and mother each carry genes that cause the disease. However, it only manifests itself when its DNA combines with that of the child, making it active.
Whoever has it, is born with a defect in the encoding of the enzyme that acts under phenylalanine, which hinders the metabolism process and generates an accumulation of this amino acid in the blood. This excess causes a toxic effect on the body and affects several important organs.
Treatment is based on the controlled use of medication, in addition to a diet that aims to cut foods containing phenylalanine, such as cheese and meat, to avoid more serious neurological damage.
The disease can be detected right after delivery, through the baby ‘s foot test , and the treatment can be started early. But, children who are not diagnosed yet in the maternity ward, can be diagnosed through laboratory tests, such as a blood test, which measures the amount of phenylalanine in the bloodstream.
The number of cases of the disease in Brazil is low, representing 1 for every 12 thousand newborn children, according to the Brazilian Society of Pediatrics (SBP). Therefore, phenylketonuria is considered rare.
Although there is no cure, phenylketonuria is treatable and the patient can live well with the condition, as long as they follow the medical recommendations correctly.
SUS offers comprehensive and free care to all rare diseases, according to the clinical need of each case. Currently, the heel prick test is available nationwide for hospitals and maternity hospitals.
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