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.

摘要

磷酸甘油酸激酶 1 (PGK1) 催化糖酵解途径中的第一个 ATP 生成反应。PGK1编码基因的某些突变在临床上表现为不同的表现，包括溶血性贫血、中枢神经系统 (CNS) 功能障碍和肌病。文献中已在临床和分子水平上描述了各种PGK1突变。在此，我们描述了一个新的病例PGK1突变（PGK1Galveston）在一个 4 岁的男孩身上，他表现出所有三种表现。我们讨论了该患者的特征性血液病理学发现，并与之前描述的神经影像学发现进行了比较。这种情况的多变临床表现及其固有的独特性为医生提供了诊断挑战。此演示文稿将增加当前对这种情况的知识体系，并有助于指导未来的调查和管理。