ABSTRACT
Introducción: Poco se sabe sobre las secuelas nutricionales de los errores innatos del metabolismo (EIM) sin diagnóstico oportuno en Colombia. Objetivo: Describir las principales características nutricionales de pacientes con EIM de proteínas en consulta privada de nutrición en Bogotá, Colombia y si se atribuyen a la patología o variables sociodemográficas. Metodología: Se realizó un estudio descriptivo transversal observacional de pacientes con EIM de proteínas, recolectando datos sociodemográficos, antropométricos y dietéticos. Resultados: Se recolectaron 22 pacientes: 45% de sexo femenino, 36% lactantes; 59% de zona urbana y 77% de nivel socioeconómico (NSE) bajo. El 41% se encontraba eutrófico y 45% presentó retraso de talla, sin existir diferencias por sexo, NSE, zona de residencia ni grupo etáreo. El 90% presentó adherencia al tratamiento, cubriendo las recomendaciones para edad, patología y aminoácidos limitantes. No existieron diferencias significativas en el aporte dietético por variables sociodemográficas excepto por grupo etáreo. Conclusión: La principal afección nutricional es crónica y atribuible al EIM.
Little is known about the nutritional consequences of inborn errors of metabolism (IEM) without neonatal diagnosis in Colombia. The aim of our study was to describe the nutritional characteristics of individuals with IEM who attended a nutritional private practice in Bogotá, Colombia, and to evaluate whether this status is consequence of the disease or other social or demographic variables. This was a descriptive observational study with a cross-sectional design, in which anthropometrical measurements were taken along with a diet analysis and the recollection ofsocial and demographic variables. A sample of 22 individuals was gathered: Forty five % women, 36% infants, 59% resided in an urban area and 77% had a low socioeconomic status (SES). More than 40% had an adequate nutritional status and 45% suffered growth retardation; no differences were found according to gender, area of residence, SES nor age group. Nearly 90% had adequate treatment adherence, fulfilling their nutritional requirements according to age, disease and limiting amino acids. The only difference found in dietary intake was among age groups, in which the intake per kg of weight decrease as the individual got older. We concluded that the main nutritional outcome in patients with IEM was growth retardation and it can be attributed to the disease rather than other social or demographic variables.