Porfiria neuropática, más allá que un reto diagnóstico. Reporte de caso y revisión de la literatura

Abstract

Porphyria is a disease caused by a retrograde accumulation of precursors of the HEM group, which is essential for the hemoglobin funtion; generating organic toxicity. Acute hepatic porphyrias are characterized by neurological involvement, the most frequent is the acute intermittent porphyria. The neurological symptoms are explained by the toxicity induced by the enzyme aminolevulinic acid (ALA) and the critical deficiency of the HEM group. The clinical presentation is varied, as is the neurological onset; hence the complexity in its diagnosis, which must be early and timely.