Article

Unmasking clinical heterogeneity and diagnostic conundrums of acute intermittent porphyria: a case series from the middle east

2026-08-21

Abstract excerpt

Abstract Background Acute intermittent porphyria (AIP) is a rare inherited metabolic disorder caused by an alteration in the heme synthesis pathway leading to the accumulation of porphyrins and their precursors, δ-aminolevulinic acid (ALA) and porphobilinogen (PBG). Although most patients are asymptomatic, AIP is typically characterized by a triad of abdominal pain, neurologic impairment, and psychiatric abnormali...

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Literature Corpus work: a417af15-d127-501f-968f-484c3388e293
DOI: 10.1186/s13023-026-04538-5

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