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First Report of Phosphoglycerate Kinase Deficiency in a Dinè Child With Review of Current Literature
Author(s) -
Hierholzer Ariel,
Mador Jillian,
Guntu Rachna,
Schafernak Kristian,
Grebe Theresa A.
Publication year - 2025
Publication title -
american journal of medical genetics part a
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.064
H-Index - 112
eISSN - 1552-4833
pISSN - 1552-4825
DOI - 10.1002/ajmg.a.64034
Subject(s) - phosphoglycerate kinase , current (fluid) , medicine , genetics , biology , physics , gene , thermodynamics
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.