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

Edgar Gutierrez, Mathew G. Bayes, Jayati Mallick, Liesel Dell’osso, Kirill A. Lyapichev, Akila Muthukumar

Research output: Contribution to journalArticlepeer-review

Abstract

The enzyme phosphoglycerate kinase 1 (PGK1) catalyzes the first ATP producing reaction in the glycolysis pathway. Certain mutations to the coding gene of PGK1 present clinically with varying manifestations including hemolytic anemia, central nervous system (CNS) dysfunction and myopathy. Various PGK1 mutations have been described in the literature at the clinical and molecular level. Herein, we describe a novel case PGK1 mutation (PGK1 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.

Original languageEnglish (US)
Pages (from-to)76-85
Number of pages10
JournalPediatric Hematology and Oncology
Volume40
Issue number1
DOIs
StatePublished - Feb 2023

Keywords

  • Hemolytic anemia
  • myopathy
  • phosphoglycerate kinase 1 deficiency

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health
  • Hematology
  • Oncology

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