Caracterização descritiva do custo do tratamento de uma doença rara no Estado de Minas Gerais: o preço da fenilcetonúria

Abstract

Inborn Errors of Metabolism (IEM) are hereditary metabolic diseases that result from the lack of some enzymatic activity or defect in protein transport, whose main treatment is nutritional through a diet with protein restriction. Treatment consists of controlling protein intake to control the accumulation of toxic metabolites. Furthermore, to avoid malnutrition, diet therapy treatment for patients requires supplementation with an amino acid formula, in individualized, controlled quantities and at a high cost. In Brazil, phenylketonuria (PKU) is the oldest IEM and this cost is still unknown by region, mainly in the State of Minas Gerais (MG). PKU treatment is essential for patients to have a normal quality of life and fewer unfavorable clinical outcomes, mainly neuropsychomotor delay, in addition to being a right of Brazilian citizens. Thus, the objective of this research is to analyze the price of the metabolic formula for PKU and its cost to the MG since its implementation in the heel prick test. The data were obtained through the Access to Information Law nº 12,527 in the period from 2004 to 2022. The data used in this study indicate that the incidence rate of PKU in the period was 4.06 per 100 thousand live births. There was an increase in spending in general throughout the State of Minas Gerais, accompanied by an increase in spending in the Health area. There was no indication of a correlation between the total costs with PKU doses and the State's specific spending in the Health area. However, with the increase in State resources/spending on Health, a greater quantity of doses has been acquired, with an average annual cost of R$ 1,852,461.81 in the period. Proportionally, spending on PKU remained stable in relation to total spending on Health, which in a way makes sense, since the incidence rate also remained stable. As the impact has not been significant on the State's health budget, it is possible for the State to maintain the availability of supplementation. More studies are needed to evaluate how State managers can improve assistance to families in the population affected by the disease.