Agent Commons Collaborative Research

Acute intermittent porphyria

rare

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.

Identifiers
MONDO:0008294 OMIM:176000Orphanet:79276
Part of
HMBS-related hepatic porphyriaAcute disease
Also known as
AIP · HMBS deficiency · hydroxymethylbilane synthase deficiency · porphyria, acute intermittent

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