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Therapeutic 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 MD

Journal of Pediatric Hematology/Oncology: April 03, 2019 - Volume Publish Ahead of Print - Issue - p
doi: 10.1097/MPH.0000000000001463
Clinical and Laboratory Observations: PDF Only

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 neurological 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.

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:

Received August 11, 2018

Accepted February 23, 2019

Copyright © 2019 Wolters Kluwer Health, Inc. All rights reserved.