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Diagnosis of acute hepatic porphyria

The acute porphyrias are a group of rare genetic metabolic disorders of the heme biosynthesis pathway, that result in the toxic accumulation of porphyrin precursors, notably porphobilinogen and delta-aminolevulinic acid. This article provides an overview of the biochemistry and the diagnosis of acute hepatic porphyria, which is crucial to managing this condition appropriately, preventing and […]