O07: Inhibiting Wnt/β-catenin-mTOR signaling enhances porphyrin clearance in porphyrias with hepatic involvement
Abstract
Porphyrias with hepatic manifestations are rare metabolic liver disorders characterized by defects in the biosynthesis of heme that lead to accumulation of toxic heme precursors (porphyrin intermediates), oxidative stress, mitochondrial dysfunction, and liver injury. Although individually rare, porphyrias collectively impose a substantial clinical and economic burden in the United States with annual healthcare costs estimated in the billions. Current therapies are limited by cost, efficacy, and safety concerns, emphasizing the need for novel treatment strategies.
Fields of Study & Subjects
Porphyrin Metabolism and Disorders
Metabolism and Genetic Disorders
Porphyrin and Phthalocyanine Chemistry
Publication details
- Journal / source
- Genetics in Medicine Open
- Volume
- 4
- Pages
- 104292–104292
- Publication date
- 1 January 2026
- Language
- EN