Acute intermittent porphyria

MONDO:0008294

Acute intermittent porphyria is the most frequent and the most severe form of the acute hepatic porphyrias. It is characterized by the occurrence of neuro-visceral attacks without cutaneous manifestations.

Also known as: acute intermittent porphyria, AIP, HMBS deficiency, PBGD deficiency, UPS deficiency, hydroxymethylbilane synthase deficiency, porphobilinogen deaminase deficiency, porphyria, Chester type

5 clinical trials for this condition and its sub-types, 5 tagged with Acute intermittent porphyria itself.

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Where it sits in the disease tree

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Part of

↑ Acute disease (4756) ↑ HMBS-related hepatic porphyria (5)

Including sub-types (5) Tagged with Acute intermittent porphyria (5)

Trials to join now! 3 Not yet finished but already full! 1 Terminated 1

Porphyria biomarker hunt could transform patient monitoring

Knowledge-focused Ongoing

This study aims to find new biological markers (biomarkers) that can show how active acute porphyria is in the body and how well treatments are working. Researchers will study 50 people with confirmed acute porphyria to measure gene activity related to heme production and stress …

Sponsor: The University of Texas Medical Branch, Galveston • Aim: Knowledge-focused

Last updated Jun 27, 2026 12:32 UTC

Acute intermittent porphyria

Where it sits in the disease tree

Porphyria biomarker hunt could transform patient monitoring