Neuropathic porphyria, beyond a diagnostic challenge. Case report and literature review

Tatiana Patricia Buitrago-González; Cinthya Katerine Galindo González; Eder Cáceres; Iván Mauricio González Zambrano

doi:10.1016/j.acci.2025.02.003

Neuropathic porphyria, beyond a diagnostic challenge. Case report and literature review

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

Tatiana Patricia Buitrago-González (Autor Corresponsal), Cinthya Katerine Galindo González (Estudiante de maestría), Eder Cáceres (Tercer Autor), Iván Mauricio González Zambrano (Cuarto Autor)

Universidad de la Sabana

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Resumen

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.

Título traducido de la contribución	Porfiria neuropática, más allá que un reto diagnóstico. Reporte de caso y revisión de la literatura
Idioma original	Inglés
Páginas (desde-hasta)	564-570
Número de páginas	7
Publicación	Acta Colombiana de Cuidado Intensivo
Volumen	25
N.º	3
DOI	https://doi.org/10.1016/j.acci.2025.02.003
Estado	Publicada - 1 jul. 2025

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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.",

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Neuropathic porphyria, beyond a diagnostic challenge. Case report and literature review. / Buitrago-González, Tatiana Patricia (Autor Corresponsal); Galindo González, Cinthya Katerine (Estudiante de maestría); Cáceres, Eder (Tercer Autor) et al.
En: Acta Colombiana de Cuidado Intensivo, Vol. 25, N.º 3, 01.07.2025, p. 564-570.

Producción científica: Contribución a una revista › Artículo › revisión exhaustiva

TY - JOUR

T1 - Neuropathic porphyria, beyond a diagnostic challenge. Case report and literature review

AU - Buitrago-González, Tatiana Patricia

AU - Cáceres, Eder

A2 - Galindo González, Cinthya Katerine

A2 - González Zambrano, Iván Mauricio

PY - 2025/7/1

Y1 - 2025/7/1

N2 - 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.

AB - 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.

UR - https://www.scopus.com/pages/publications/85219506879

U2 - 10.1016/j.acci.2025.02.003

DO - 10.1016/j.acci.2025.02.003

M3 - Artículo

AN - SCOPUS:85219506879

SN - 0122-7262

VL - 25

SP - 564

EP - 570

JO - Acta Colombiana de Cuidado Intensivo

JF - Acta Colombiana de Cuidado Intensivo

IS - 3

ER -

Neuropathic porphyria, beyond a diagnostic challenge. Case report and literature review

Resumen

Focos Estratégicos

Clasificación de Articulo

Indexación Internacional (Artículo)

Scopus-Q Quartil

ISI- Q Quartil

Categoría Publindex

Acceder al documento

Otros archivos y enlaces

Huella

Citar esto