Online Articles: Clinical and Laboratory ObservationsTherapeutic Benefit of Blood Transfusion in a Patient With Novel PGK1 Mutation (c.461T>C [p.L154P])Ward, Scott K. MD; Stevens, Cathy A. MD; Keates-Baleeiro, Jennifer MD; Bhakta, Manoo MDAuthor Information University of Tennessee College of Medicine Chattanooga, Chattanooga, TN The authors declare no conflict of interest. Reprints: Scott K. Ward, MD, 5941 South Loop E #1402, Houston, TX 77033 (e-mail: firstname.lastname@example.org). Received August 11, 2018 Accepted February 23, 2019 Journal of Pediatric Hematology/Oncology: May 2020 - Volume 42 - Issue 4 - p e228-e230 doi: 10.1097/MPH.0000000000001463 Buy Metrics Abstract Phosphoglycerate kinase (PGK) is glycolytic enzyme critical in the creation of adenosine triphosphate. Mutations in the gene for this enzyme, PGK1, are associated with PGK deficiency, which is characterized by neurologic symptoms, nonhereditary spherocytic hemolytic anemia, and myopathy. We present a 20-year-old male with a novel c.461T>C (p.L154P) PGK1 mutation and clinical disease complicated by anemia and neurological symptoms. There is no recommended treatment for PGK deficiency. Because of our patient’s advanced disease progression, we initiated serial blood transfusions and report significant subjective improvement in the patient’s physical condition before his passing from PGK deficiency-related complications. Copyright © 2020 Wolters Kluwer Health, Inc. All rights reserved.