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

Tatiana Patricia Buitrago-González (Correspondent Author)
, Cinthya Katerine Galindo González (masterstudent)
, Eder Cáceres (Third Author)
, Iván Mauricio González Zambrano (Fourth Autor)

Universidad de la Sabana

Research output: Contribution to journal › Article › peer-review

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.

Translated title of the contribution	Porfiria neuropática, más allá que un reto diagnóstico. Reporte de caso y revisión de la literatura
Original language	English
Pages (from-to)	564-570
Number of pages	7
Journal	Acta Colombiana de Cuidado Intensivo
Volume	25
Issue number	3
DOIs	https://doi.org/10.1016/j.acci.2025.02.003
State	Published - 1 Jul 2025

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10.1016/j.acci.2025.02.003

Cite this

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

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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year = "2025",

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doi = "10.1016/j.acci.2025.02.003",

language = "Ingl{\'e}s",

volume = "25",

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publisher = "Asociacion Colombiana de Medicina Critica y Cuidado lntensivo",

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Neuropathic porphyria, beyond a diagnostic challenge. Case report and literature review. / Buitrago-González, Tatiana Patricia (Correspondent Author); Galindo González, Cinthya Katerine (masterstudent); Cáceres, Eder (Third Author) et al.
In: Acta Colombiana de Cuidado Intensivo, Vol. 25, No. 3, 01.07.2025, p. 564-570.

Research output: Contribution to journal › Article › peer-review

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

Abstract

Strategic Focuses

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Indexación Internacional (Artículo)

Scopus-Q Quartil

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