Current and innovative emerging therapies for porphyrias with hepatic involvement

Porphyrias are rare inherited disorders caused by specific enzyme dysfunctions in the heme synthesis pathway resulting in abnormal accumulation of specific pathway intermediates. The symptoms depend upon the chemical characteristics of these substances. Porphyrins are photoreactive and cause photocutaneous lesions on sunlight-exposed areas, whereas accumulation of porphyrin precursors is related to acute neurovisceral attacks. Current therapies are suboptimally effective, and mostly address symptoms rather than underlying disease mechanisms.
Source: Journal of Hepatology - Category: Gastroenterology Authors: Tags: Clinical Trial Watch Source Type: research