RESUMO
Abstract Phenylketonuria (PKU) is an autosomal recessive defect affecting the metabolic pathway of phenylalanine (Phe), causing hyperphenylalaninemia and neurotoxicity. Diagnosis must occur in the neonatal period and treatment should begin as early as possible. Evidence implies that treatment adherence declines as age advances. The aim was to describe the diet of a subgroup of Chilean adults with PKU currently in follow-up. Fifty-three subjects (49% women) followed up between January 2021 to April 2023 were considered. The concentration of Phe (PheC) in dried blood spots measured by fluorometry and 24-hour dietary recalls were analyzed. The median PheC of the sample was 438µmol/L (interquartile range(IQR):351-585µmol/L). A protein intake of 1.35±0.3 gr/Kg/d was observed of which 87% came from the protein substitute without Phe. Participants had a median Phe intake of 459mg/d (IQR:327-976) and 13.1g/d of fiber intake. Most participants, 51% and 92% reported consuming fruits and vegetables, respectively, and 32% consumed Low-Protein foods. Regarding micronutrients, all participants exceeded 90% adequacy according to recommendations. For vitamin-D and vitamin-B12, 100% is provided by the protein substitute. According to our results, it is mandatory to establish transition programs toward adulthood, to constantly maintain good metabolic control, and to adapt diet therapy to their new lifestyle.
RESUMO
Abstract Since 1992, Chile has had a Newborn Screening Program for Phenylketonuria (PKU), which currently has an incidence of 1:18,916 newborns. The objective of the current study was to describe the 2020 follow up of the Chilean PKU cohort. The variables analyzed were: nutritional status, dietary compliance and neuropsychological functioning. We conducted a descriptive cross-sectional statistical analysis. The 271 subjects with PKU had an average age of diagnosis of 17±8 days and a phenylalanine (Phe) level of 1122±546 umol/L. Approximately 80% of protein requirement came from a protein substitute. For those <18 years of age, 80% had good dietary compliance with Phe level between 120-360 umol/L and those >18 years had a median of 522 umol/L (95%CI 468 - 636). Forty-four percent of the active PKU cohort had overweight/obesity. Eighty-five percent of the cohort >4 years of age had a normal intelligence quotient (IQ) (score 80-120). We observed a negative correlation (p <0.001; 95% CI: - 0.5, -0.2) between IQ score and Phe level. The Chilean protocol and protein substitute subsidy for life, together with the follow-up and continuous education carried out by the clinical team has encouraged compliance.
RESUMO
La importancia del consumo de carne de cerdo infectada con cisticerco cellulosae causante de la teniasis, radica sobretodo en adquirir una posterior cisticercosis de localizacion cerebral. El grupo estudiado, constituido por la totalidad de los trabajadores del Matadero Municipal, es considerado de alto riesgo por la manipulacion de carnes contaminadas y el supuesto gran consumo de las mismas de las mismas por su costo reducido. En el estudio, se recabaron datos en ralacion a habitos higienicos, alimenticios y vivienda simultaneamente se realizaron examenes coproparasitologicos duplicados. El estudio inmunologico para cisticercosis, correlacionado a tecnicas de inmunofluorecencia indirecta (IFI) y ensayo de la enzima ligada al inmuno absorbente (ELISA) fue realizado en el Instituto Boliviano de Biologia de la Altura (IBBA) de La Paz. Los resultados mas descollantes fueron que de la totalidad de los trabajadores el 8,5% presentaron teniasis, entretanto que el analisis inmunologico dio un 36,5% de posivilidad mas un 11,5% de casos dudosos, sobre el total de la poblacion estudiada