Actualización para el tratamiento de la hiperamonemia aguda en pacientes con errores innatos del metabolismo
Resumen
La hiperamonemia aguda (HAA) es una urgencia médica que causa daño neurológico y puede conducir a daño neurológico o incluso la muerte. En los pacientes con errores innatos del metabolismo (EIM) se presenta con mayor frecuencia, sobre todo en eventos de descompensación metabólica, ameritando atención de terapia intensiva. Los EIM que principalmente causan HAA incluyen los defectos del ciclo de la urea, acidemias orgánicas, defectos de oxidación de ácidos grasos y los defectos del ciclo de la carnitina. Ante un evento de HAA el objetivo primordial es preservar la vida y la integridad del sistema nervioso central, disminuyendo los niveles sanguíneos de amonio hasta valores normales, mediante tratamiento médico urgente, soporte vital y nutrición individualizada. El conocer los medicamentos y métodos disponibles para la remoción del amonio, así como las necesidades energéticas, proteicas, suplementos, cofactores y vitaminas, es muy importante para la correcta toma de decisiones médicas y nutricionales en cada paciente tomando en cuenta su condición clínica, bioquímica y enfermedad de base. El objetivo de este trabajo es presentar conceptos actuales sobre el tratamiento de la HAA en pacientes con EIM.
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