Disease

Acute intermittent porphyria1, 2

Gene

HMBS

Inheritance AD
Current Treatments Givosiran, hemin
Evidence for Treatment expert opinion
Non-Molecular Testing Availability yes
Non-Molecular Test erythrocyte porphobilinogen deaminase activity3
ClinGen https://actionability.clinicalgenome.org/ac/Adult/ui/stg2SummaryRpt?doc=AC095
Disease Frequency (per 100,000) 1.44, 5
Genes Included in Disease Frequency HMBS
Experimental / Investigational Therapies https://clinicaltrials.gov/ct2/results?cond=Acute+Intermittent+Porphyria&term=&cntry=&state=&city=&dist=
Last Updated: March 5, 2026
RX Genes
Privacy Overview

This website uses cookies so that we can provide you with the best user experience possible. Cookie information is stored in your browser and performs functions such as recognising you when you return to our website and helping our team to understand which sections of the website you find most interesting and useful.