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Updated: May 9, 2026

Three-dimensional Imaging and Analysis of Mitochondria within Human Intraepidermal Nerve Fibers

Three-dimensional Imaging and Analysis of Mitochondria within Human Intraepidermal Nerve Fibers

Published on: September 29, 2017

Porphyric neuropathy.

Cindy Shin-Yi Lin¹, Susanna B Park, Arun V Krishnan

¹School of Medical Sciences, Faculty of Medicine, University of New South Wales, Sydney, Australia.

Handbook of Clinical Neurology

|August 13, 2013

Summary

This summary is machine-generated.

Porphyric neuropathy, linked to acute hepatic porphyrias, presents diagnostic challenges. Research explores neurotoxicity mechanisms, focusing on porphyrin precursors and heme synthesis deficiencies.

Keywords:

acute intermittent porphyria heme inward rectification (Ih)ischemia nerve excitability

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Three-dimensional Imaging and Analysis of Mitochondria within Human Intraepidermal Nerve Fibers

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Establishing a Mouse Model of a Pure Small Fiber Neuropathy with the Ultrapotent Agonist of Transient Receptor Potential Vanilloid Type 1

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Published on: February 13, 2018

Area of Science:

Biochemistry
Neuroscience
Genetics

Background:

Porphyric neuropathy is a diagnostic challenge, often mistaken for other acute conditions.
Acute neurovisceral attacks in hepatic porphyrias are triggered by environmental factors like drugs, hormones, and diet.

Purpose of the Study:

To review the clinical, genetic, and pathophysiological aspects of acute hepatic porphyrias.
To discuss the mechanisms of neurotoxicity in porphyric neuropathy.

Main Methods:

Review of clinical manifestations, genetics, and pathophysiology.
Discussion of hypotheses on neurotoxicity mechanisms.
Reference to novel experimental models of porphyric neuropathy.

Main Results:

Acute hepatic porphyrias cause neurovisceral symptoms mimicking various medical and psychiatric conditions.
Environmental factors significantly influence the development of acute neurovisceral attacks.

Conclusions:

The precise cause of neurological symptoms in acute porphyrias is still under investigation.
Key hypotheses involve the toxicity of porphyrin precursors and insufficient heme synthesis.
Experimental models are crucial for understanding porphyric neuropathy.