Fenilcetonúria: dados sociodemográficos e fenilcetonúricos do Estado de Goiás e levantamento de métodos de identificação e de remoção de fenilalanina em alimentos

Abstract

Phenylketonuria is a genetic disease characterized by a mutation in the gene for hepatic phenylalanine hydroxylase enzyme. This enzyme is responsible for catalyzing the conversion of phenylalanine to tyrosine process. The phenylalanine buildup in the body serious health problems. The objective of this research was to study phenylketonuria and to do a diagnosis of the actual situation of phenylketonuria in the state of Goiás, in order to better understand patients and disclose the disease, the importance of treatment and the need for investments nationwide. Concomitantly, as objective of this research was a survey of methodologies for extration and analyses of phenylalanine in food. The information from phenylketonuria were obtained through their medical records organized by the Specialized Multidisciplinary Clinic Association of Parents and Friends of Exceptional of Anápolis. The information grouped in tables without the identities of patients were organized and discussed in this work. According to the survey carried out this work, currently the state of Goiás has 76 people with phenylketonuria treated and of these 39.5% are male and 60.5% female. Most patients are under 18 (77.63%) and have an income of 1-3 minimum wages (55%). The phenylketonurics reside in 32 different cities in the state of Goiás. The main phenylalanine analysis methods are: chromatography, spectrophotometry, and analysis for total nitrogen content. The main phenylalanine extraction methods are enzymatic removal and use of activated charcoal. This work will form the basis for wider dissemination and awareness of phenylketonuria and the need for investment in research in health and technological processes in order to develop low cost food for carriers of the disease, since the diet is expensive and most of patients have low income.