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Centro de Investigaciones Regionales Dr. Hideyo Noguchi, Universidad Autónoma de Yucatán

2006, Número 3

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Rev Biomed 2006; 17 (3)


Actualización en el diagnóstico y tratamiento de la acidemia isovalérica

Martín-Hernández I

Idioma: Español
Referencias bibliográficas: 57
Paginas: 213-223
Archivo PDF: 122.19 Kb.


RESUMEN

Objetivos. Este trabajo ofrece una revisión teórica y actualizada sobre la acidemia isovalérica, dirigida no sólo al personal médico especializado en este tema, sino también a otros especialistas interesados en el estudio de los errores innatos del metabolismo.
Fuentes de extracción. Artículos actualizados y libros de texto relacionados con el tema. Consulta en Internet.
Resultados. La acidemia isovalérica es un error congénito autosómico recesivo del catabolismo de la leucina causado por la deficiencia de la isovaleril coenzima A deshidrogenasa. Esta deficiencia enzimática conlleva a un desorden metabólico severo, manifestado clínicamente como vómitos, deshidratación, acidosis, convulsiones, coma y muerte. Fundamentalmente, el diagnóstico de este desorden consiste en la medición de diferentes metabolitos en sangre y orina, y en el análisis de la actividad enzimática. Con detección temprana el pronóstico y calidad de vida mejora grandemente. El tratamiento consiste en una dieta baja en proteínas, fórmulas especializadas que no contengan leucina, y suplementos de carnitina y/ó glicina.
Conclusiones. Debido a lo raro de este desorden las áreas de salud y los médicos tienen relativamente poca experiencia en el manejo del mismo. Se hace vital la estrecha relación de trabajo entre los clínicos y el laboratorio para el diagnóstico temprano, la pronta transferencia a un centro especializado y una mejor atención a la salud de nuestra población pediátrica.


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