Yanes-Vallejera A, Monaga-Castillo M

Idioma: Español
Referencias bibliográficas: 38
Paginas: 243-250
Archivo PDF: 48.17 Kb.

RESUMEN

Objetivos. Brindar información acerca de los aspectos bioquímicos, presentación clínica, mecanismos fisiopato-lógicos, estudios sobre mutaciones, métodos de diagnóstico y tratamiento de la deficiencia de adenilosuccinato liasa, un error congénito del metabolismo.
Fuentes de extracción. Libros de texto relacionados con el tema, artículos actualizados y consultas en internet.
Resultados. La deficiencia de la enzima adenilosuccinato liasa (ADSL) es un defecto autosómico recesivo en la vía de síntesis de novo de las purinas, caracterizado por la acumulación de succiniladenosina (S-Ado) y succinilaminoimidazol carboxamida ribósido (SAICA ribósido) en los fluidos biológicos. Esta enfermedad tiene una presentación clínica variable que incluye retraso psicomotor, convulsiones, hipotonía y autismo. Se han descrito alrededor de 20 mutaciones, siendo la R426H la más frecuente. El diagnóstico puede realizarse tanto en el período prenatal como postnatal. Hasta la actualidad no existe un tratamiento para la enfermedad.
Conclusiones. La severidad del cuadro clínico, así como la ausencia de un tratamiento disponible y efectivo conducen a una búsqueda profunda de información acerca de esta enfermedad.

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