Acute Intermittent Porphyria (AIP)

Acute Intermittent Porphyria (AIP) is a rare inherited metabolic disorder caused by deficiency of porphobilinogen deaminase, an enzyme involved in Heme Synthesis at the conversion of porphobilinogen to hydroxymethylbilane.

This enzyme deficiency is inherited in an autosomal dominant pattern, and causes the accumulation of heme precursors, notably porphobilinogen and aminolevulinic acid (ALA).

Symptoms can be provoked by starvation, alcohol ingestion, or CYP450 inducers, and include abdominal pain, port wine-colored urine, psychological disturbances (e.g. hallucinations), and polyneuropathy.

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