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Article

Acute intermittent porphyria: studies of the severe homozygous dominant disease provides insights into the neurologic attacks in acute porphyrias.

Archives of neurology - 1 Nov 2004

Solis Constanza, Martinez-Bermejo Antonio, Naidich Thomas P, Kaufmann Walter E, Astrin Kenneth H, Bishop David F, Desnick Robert J

Abstract excerpt

BACKGROUND: Acute intermittent porphyria (AIP), due to half-normal hydroxymethylbilane synthase activity,is characterized by acute life-threatening neurologic attacks whose etiology remains unclear. To date, only 3 patients confirmed to have homozygous dominant AIP (HD-AIP) have been described (hydroxymethylbilane synthase genotypes R167Q/R167Q and R167W/R173Q). OBJECTIVE: To investigate the genetic, biochemical,...

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Identifiers

PMID: 15534187
DOI: 10.1001/archneur.61.11.1764

Genes

AIP

Variants

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

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