Preventing hyperhomocysteinemia using vitamin B₆ supplementation in Givosiran-treated acute intermittent porphyria: Highlights from a case report and brief literature review.

ABSTRACT: Acute hepatic porphyrias are inherited metabolic disorders of heme biosynthesis characterized by the accumulation of toxic intermediate metabolites responsible for disabling acute neurovisceral attacks. Givosiran is a newly approved siRNA-based treatment of acute hepatic porphyria targeting the first and rate-limiting δ-aminolevulinic acid synthase 1 (ALAS1) enzyme of heme biosynthetic pathway. We described a 72-year old patient who presented with severe inaugural neurological form of acute intermittent porphyria evolving for several years which made her eligible for givosiran administration. On initiation of treatment, the patient developed a major hyperhomocysteinemia (>400 μmol/L) which necessitated to discontinue the siRNA-based therapy. A thorough metabolic analysis in the patient sug

SUBMITTER: Redonnet-Vernhet I 

PROVIDER: S-EPMC11004984 | biostudies-literature | 2024 Jun

REPOSITORIES: biostudies-literature