Matsumaru Shigeto, Oguni Hirokazu, Ogura Hiromi, Shimojima Keiko, Nagata Satoru, Kanno Hitoshi, Yamamoto Toshiyuki
Department of Pediatrics, Tokyo Women's Medical University, Tokyo, Japan.
Department of Transfusion Medicine and Cell Processing, Tokyo Women's Medical University, Tokyo, Japan.
Intractable Rare Dis Res. 2017 May;6(2):132-136. doi: 10.5582/irdr.2017.01020.
Phosphoglycerate kinase (PGK) deficiency affects three different organs: red blood cells (RBC), the central nervous system, and muscles. Next-generation sequencing identified a hemizygous 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 mutation found through next-generation sequencing.
磷酸甘油酸激酶（PGK）缺乏症会影响三个不同的器官：红细胞（RBC）、中枢神经系统和肌肉。新一代测序在一名16岁的日本男性患者中发现了一个半合子突变（p.V217I），该患者表现为智力残疾和病因不明的肌肉无力发作。酶分析显示红细胞PGK活性略低，其他糖酵解酶有代偿性增加。这是通过新一代测序发现的首个突变。
