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Intractable & Rare Diseases Research
Vol. 6 (2017) No. 2 p. 132-136

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http://doi.org/10.5582/irdr.2017.01020

Case Reports

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

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

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

Released 20170611   [Advance Publication] Released 20170524
Received 20170401   Revised 20170510   Accepted 20170518

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

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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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