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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.

pediatric hematology and oncology

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