A novel PGK1 mutation associated with neurological dysfunction and the absence of episodes of hemolytic anemia or myoglobinuria

Shigeto Matsumaru; Hirokazu Oguni; Hiromi Ogura; Keiko Shimojima; Satoru Nagata; Hitoshi Kanno; Toshiyuki Yamamoto

doi:10.5582/irdr.2017.01020

A novel PGK1 mutation associated with neurological dysfunction and the absence of episodes of hemolytic anemia or myoglobinuria

Intractable Rare Dis Res. 2017 May;6(2):132-136. doi: 10.5582/irdr.2017.01020.

Authors

Shigeto Matsumaru¹, Hirokazu Oguni¹, Hiromi Ogura², Keiko Shimojima³, Satoru Nagata¹, Hitoshi Kanno², Toshiyuki Yamamoto³

Affiliations

¹ Department of Pediatrics, Tokyo Women's Medical University, Tokyo, Japan.
² Department of Transfusion Medicine and Cell Processing, Tokyo Women's Medical University, Tokyo, Japan.
³ Institute of Medical Genetics, Tokyo Women's Medical University, Tokyo, Japan.

Abstract

Phosphoglycerate kinase (PGK) deficiency affects three different organs: red blood cells (RBC), the central nervous system, and muscles. Next-generation sequencing identified a hemizygous PGK1 mutation (p.V217I) in a 16-year-old Japanese male patient presenting with intellectual disability and episodes of muscle weakness of unknown etiology. Enzymatic analysis demonstrated slightly lower RBC-PGK activity and compensatory increases of other glycolysis enzymes. This is the first PGK1 mutation found through next-generation sequencing.

Keywords: PGK deficiency; Phosphoglycerate kinase 1 gene (PGK1); intellectual disability; muscle involvement; novel mutation.

Publication types

Case Reports