Updates and advances in pyruvate kinase deficiency |
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| Institution: | 1. Department of Pediatrics, Division of Pediatric Hematology-Oncology, Hassenfeld Children''s Hospital at NYU Langone Health, NYU Grossman School of Medicine, New York, NY, USA;2. Division of Hematology, Massachusetts General Hospital, Harvard Medical School, Boston, MA, USA;3. Dana-Farber/Boston Children''s Cancer and Blood Disorders Center, Harvard Medical School, Boston, MA, USA;1. JCCU Translational Surgical Oncology (A430), German Cancer Research Center (DKFZ), Heidelberg, Germany;2. DKFZ-Hector Cancer Institute, Medical Faculty Mannheim, Heidelberg University, Mannheim, Germany;3. Department of Surgery, Universitätsmedizin Mannheim, Medical Faculty Mannheim, Heidelberg University, Mannheim, Germany;4. Department of Thoracic Surgery, The First Hospital of Jilin University, Jilin, China;5. Division of Personalized Medical Oncology (A420), German Cancer Research Center (DKFZ), Heidelberg, Germany;6. Department of Personalized Oncology, Medical Faculty Mannheim, Heidelberg University, Mannheim, Germany;1. Department of Bioengineering, University of Maryland, College Park, MD 20742, USA;2. Department of Chemical and Biomolecular Engineering, University of Maryland, College Park, MD 20742, USA;1. Princess Margaret Cancer Center, University Health Network, University of Toronto, Toronto, ON M5G 1L7, Canada;2. Department of Nephrology, Rheumatology, Endocrinology and Metabolism, Okayama University Faculty of Medicine, Dentistry and Pharmaceutical Sciences, Okayama, Okayama 700-8558, Japan;3. Department of Medicine, University of Toronto, Toronto, ON M5S 1A8, Canada;4. Department of Medical Biophysics, University of Toronto, Toronto, ON M5S 1A8, Canada;5. Department of Immunology, University of Toronto, Toronto, ON M5S 1A8, Canada;6. Division of Rheumatology, St. Michael’s Hospital, Toronto, ON M5B 1W8, Canada;1. Gottfried Schatz Research Center, Molecular Biology and Biochemistry, Medical University of Graz, 8010 Graz, Austria;1. Translational Research Centre in Oncohaematology, Department of Cell Physiology and Metabolism, Faculty of Medicine, University of Geneva, CH-1211 Geneva, Switzerland;2. Institute of Life Sciences and Biomedicine, Far Eastern Federal University, 690090 Vladivostok, Russia;3. College of Materials and Chemical Engineering, Minjiang University, Fuzhou, Fujian 350108, China;4. Kulakov National Medical Research Center of Obstetrics, Gynecology and Perinatology, 4 Akademika Oparina Str., Moscow 117997, Russia;5. Department of Functional Biochemistry of Biopolymers, A.N. Belozersky Research Institute of Physico-Chemical Biology, Moscow State University, 119992 Moscow, Russia;1. Department of Obstetrics and Gynecology, The Third Affiliated Hospital of Chongqing Medical University, Chongqing 401120, China;2. Department of Systems Biology, Beckman Research Institute, City of Hope, Los Angeles, CA 91010, USA;3. Hematologic Malignancies Research Institute, City of Hope National Medical Center, Los Angeles, CA 91010, USA;4. Department of Hematology and Hematopoietic Cell Transplantation, City of Hope National Medical Center, Los Angeles, CA 91010, USA |
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| Abstract: | Mutations in the PKLR gene lead to pyruvate kinase (PK) deficiency, causing chronic hemolytic anemia secondary to reduced red cell energy, which is crucial for maintenance of the red cell membrane and function. Heterogeneous clinical manifestations can result in significant morbidity and reduced health-related quality of life. Treatment options have historically been limited to supportive care, including red cell transfusions and splenectomy. Current disease-modifying treatment considerations include an oral allosteric PK activator, mitapivat, which was recently approved for adults with PK deficiency, and gene therapy, which is currently undergoing clinical trials. Studies evaluating the role of PK activators in other congenital hemolytic anemias are ongoing. The long-term effect of treatment with disease-modifying therapy in PK deficiency will require continued evaluation. |
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