First Report of Phosphoglycerate Kinase Deficiency in a Dinè Child With Review of Current Literature.

Abstract

We report a 4-year-old Dinè (Navajo) boy who presented with acute respiratory distress, elevated creatine kinase, anemia, and progressive encephalopathy. He was subsequently diagnosed with a rare inborn error of metabolism, phosphoglycerate kinase deficiency, associated with the previously reported pathogenic variant in PGK1, c.491A>T (p.D164V). His presentation is unique and differs from previous cases of this variant. While other children have demonstrated neurologic symptoms with hemolytic crises, our patient experienced severe neurologic symptoms in addition to marked rhabdomyolysis with chronic hemolysis. This is also the first case reported in the Dinè population, an underrepresented minority.