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

Abstract excerpt

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...

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