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

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

Matsumaru S, Oguni H, Ogura H, Shimojima k, Nagata S, Kanno H, Yamamoto T


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

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