2017年
A novel PGK1 mutation associated with neurological dysfunction and the absence of episodes of hemolytic anemia or myoglobinuria
Intractable and Rare Diseases Research
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- 巻
- 6
- 号
- 2
- 開始ページ
- 132
- 終了ページ
- 136
- 記述言語
- 英語
- 掲載種別
- 研究論文(学術雑誌)
- DOI
- 10.5582/irdr.2017.01020
- 出版者・発行元
- International Advancement Center for Medicine and Health Research
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.
- ID情報
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- DOI : 10.5582/irdr.2017.01020
- ISSN : 2186-361X
- ISSN : 2186-3644
- PubMed ID : 28580215
- SCOPUS ID : 85026803860