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

This article has now been updated. Please use the final version.

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

Author information

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

JOURNAL FREE ACCESS Advance online publication

Article ID: 2017.01020

DOI https://doi.org/10.5582/irdr.2017.01020

The final version of this article is now available: Vol. 6 (2017), No. 2 pp. 132-136

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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.

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