FENILCETONÚRIA

A IMPORTÂNCIA DA INTERVENÇÃO PRECOCE E DA ADESÃO AO TRATAMENTO PARA EVITAR O DECLÍNIO NEUROPSICOLÓGICO NA FENILCETONÚRIA

Abstract

The article presents the findings of a bibliographic research that reviewed published materials on phenylketonuria, a hereditary metabolic disease classified as a rare condition. Early initiation of treatment for this condition is crucial for neuroprotection and to prevent irreversible biopsychosocial damage in the lives of individuals with phenylketonuria. Diet therapy involves strict protein restriction and the use of formulas devoid of or with low levels of phenylalanine. Even after neural development, high concentrations of phenylalanine can lead to brain intoxication, resulting in cognitive function alterations. The importance of neuropsychological evaluation in patients with phenylketonuria is evident in diagnosing neuropsychiatric conditions associated with the disease and in monitoring patients who struggle to adhere to the diet.