Hyperhomocysteinemia in acute hepatic porphyria (AHP) and implications for treatment with givosiran
Publication Details
Expert Review of Gastroenterology & Hepatology
August 2022
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.
PMID
35929959
DOI
10.1080/17474124.2022.2110469
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