Givosiran (Givlaari™) is an aminolevulinate synthase 1 (ALAS1)-directed small interfering
RNA (siRNA) covalently linked to a ligand to enable specific delivery of the siRNA to …

Physicians should be aware of porphyrias, which could be responsible for unexplained
gastrointestinal, neurologic, or skin disorders. Despite their relative rarity and complexity …

Background Up-regulation of hepatic delta-aminolevulinic acid synthase 1 (ALAS1), with
resultant accumulation of delta-aminolevulinic acid (ALA) and porphobilinogen, is central to …

Background Induction of delta aminolevulinic acid synthase 1 (ALAS1) gene expression and
accumulation of neurotoxic intermediates result in neurovisceral attacks and disease …

Acute intermittent porphyria (AIP) results from haploinsufficiency of porphobilinogen
deaminase (PBGD), the third enzyme in the heme biosynthesis pathway. Patients with AIP …

Abstract Background & Aims Upregulation of hepatic delta‐aminolevulinic acid synthase 1
with accumulation of potentially toxic heme precursors delta‐aminolevulinic acid and …

Heme is a ubiquitous and essential iron containing metallo-organic cofactor required for
virtually all aerobic life. Heme synthesis is initiated and completed in mitochondria, followed …

Background and Aims Acute hepatic porphyria comprises a group of rare genetic diseases
caused by mutations in genes involved in heme biosynthesis. Patients can experience acute …

Givosiran (Givlaari®) is an δ-aminolevulinic acid synthase 1 (ALAS1)-directed small
interfering RNA (siRNA) approved for the treatment of acute hepatic porphyria (AHP). In the …

Each of the four acute hepatic porphyrias is due to mutation of an enzyme in the heme
biosynthetic pathway. The accumulation of pathway intermediates that occur most notably …