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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

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.

Copyright © 2017 International Research and Cooperation Association for Bio & Socio-Sciences Advancement

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