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<p>Fontaine progeroid syndrome (FPS) is a rare condition characterized by abnormalities in <i>SLC25A24</i>. Some instances of FPS have been reported to be fatal early in life. Here we present the first case of mitochondrial disease diagnosed with FPS in Japan. The diagnosis was based on the presence of the heterozygous known pathogenic variant of <i>SLC25A24</i>, NM_013386.5: c.649C&gt;T and decreased activity of mitochondrial respiratory chain enzyme activity.</p>

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Fontaine progeroid syndrome with neonatal mitochondrial disease

  • 期刊论文

  • 出版模式：

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  • 发表日期：

    2025年11月21日

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  • Mitsuhiko Riko,
  • Daiki Kawamoto,
  • Kentaro Hirayama,
  • Tomoya Tsuchihashi,
  • Takayuki Suzuki,
  • Takuya Sugimoto,
  • Yasushi Okazaki,
  • Kei Murayama,
  • Daisuke Tokuhara

摘要

Fontaine progeroid syndrome (FPS) is a rare condition characterized by abnormalities in SLC25A24. Some instances of FPS have been reported to be fatal early in life. Here we present the first case of mitochondrial disease diagnosed with FPS in Japan. The diagnosis was based on the presence of the heterozygous known pathogenic variant of SLC25A24, NM_013386.5: c.649C>T and decreased activity of mitochondrial respiratory chain enzyme activity.