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Hyperhomocysteinemia in acute hepatic porphyria (AHP) and implications for treatment with givosiran

Publication Details

Expert Review of Gastroenterology & Hepatology

August 2022

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Author(s)

Paolo Ventura¹, Eliane Sardh², Nicola Longo³, Manisha Balwani⁴, Jorge Plutzky⁵, Laurent Gouya⁶, John Phillips⁷, Sean Rhyee⁸, Mary-Jean Fanelli⁸, Marianne T Sweetser⁸, Petro E Petrides⁹

Affiliations

¹Department of Surgical and Medical Sciences for Children and Adults, Internal Medicine Unit, University of Modena and Reggio Emilia, Modena, Italy; ²Porphyria Centre Sweden, Centre for Inherited Metabolic Diseases, Department of Molecular Medicine and Surgery, Karolinska Institutet, Karolinska University Hospital, Stockholm, Sweden; ³Division of Medical Genetics, Departments of Pediatrics and Pathology, University of Utah, Salt Lake City, UT, USA; ⁴Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, NY, USA; ⁵Department of Medicine, Brigham and Women's Hospital, Harvard Medical School, Boston, MA, USA; ⁶Centre Français des Porphyries, Paris, France; ⁷Division of Hematology and Hematologic Malignancies, Department of Internal Medicine, University of Utah, Salt Lake City, UT, USA; ⁸Alnylam Pharmaceuticals, Cambridge, MA, USA; ⁹EPNET Center Munich, Hematology Oncology Center, Ludwig Maximilians University (LMU) of Munich Medical School, Munich, Germany

Abstract

Introduction:

Homocysteine is a sulfur-containing amino acid formed in the intermediary metabolism of methionine. Amino acid metabolism and heme biosynthesis pathways are complexly intertwined. Plasma homocysteine elevation, hyperhomocysteinemia (HHcy), has been reported in patients with acute hepatic porphyria (AHP), a family of rare genetic disorders caused by defects in hepatic heme biosynthesis.