Recognition of a novel variant of phosphoglycerate kinase 1 deficiency PGK1 Galveston (c.472G > C) in a child with hemolytic anemia, neurologic dysfunction and myopathy

• Published in: Pediatric hematology and oncology Vol. 40; no. 1; pp. 76 - 85
• Main Authors: Gutierrez, Edgar, Bayes, Mathew G, Mallick, Jayati, Dell'osso, Liesel, Lyapichev, Kirill A, Muthukumar, Akila
• Format: Journal Article
• Language: English
• Published: England 01.02.2023
• Subjects: Anemia, Hemolytic - genetics; Child; Child, Preschool; Humans; Male; Metabolism, Inborn Errors - genetics; Muscular Diseases; Phosphoglycerate Kinase - genetics; myopathy; phosphoglycerate kinase 1 deficiency; Hemolytic anemia
• DOI: 10.1080/08880018.2022.2072987
• ISSN: 0888-0018

The enzyme phosphoglycerate kinase 1 (PGK1) catalyzes the first ATP producing reaction in the glycolysis pathway. Certain mutations to the coding gene of present clinically with varying manifestations including hemolytic anemia, central nervous system (CNS) dysfunction and myopathy. Various mutations have been described in the literature at the clinical and molecular level. Herein, we describe a novel case mutation ( Galveston) in a 4-year-old boy who presented with all three manifestations. We discuss the characteristic hematopathology findings from this patient as well as provide a comparison with previously described neuroimaging findings. The variable clinical presentation of this condition along with its inherent uniqueness provide a diagnostic challenge for physicians. This presentation will add to the current body of knowledge for this condition and help guide future investigation and management.