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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

4 clinical trials for this condition and its sub-types.

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Broader categories

Disease (680) Liver disorder (307) Metabolic disease (233) Hereditary disease (176) Digestive system disorder (160) Skin disorder (132) Endocrine system disorder (72) Inborn errors of metabolism (45) Acute disease (20) Human disease (14)
Trials to join now! 2 Not yet finished but already full! 1 Terminated 1
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  • 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

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