A novel R275X mutation of the SLC25A15 gene in a Japanese patient with the HHH syndrome

Hiroyuki Torisu, Ryutaro Kira, Naomi Kanazawa, Megumi Takemoto, Masafumi Sanefuji, Yasunari Sakai, Seiichi Tsujino, Toshiro Hara

研究成果: Contribution to journalArticle査読

4 被引用数 (Scopus)

抄録

The hyperornithinemia-hyperammonemia-homocitrullinuria (HHH) syndrome (MIM 238970) is an autosomal recessive metabolic disorder caused by a deficiency of the mitochondrial ornithine transporter, one of the urea cycle components. Mutations in the SLC25A15 gene have been coupled to the HHH syndrome. We describe a Japanese female patient with the HHH syndrome due to a novel homozygous R275X SLC25A15 mutation and male sibling who presumably carried the same mutation. He exhibited slowly progressive deterioration with seizures, a gait disturbance due to polyneuropathy, episodic confusion, and died of acute encephalopathy at 34 years of age while the proband exhibited moderate mental retardation, seizures, mild spastic paraplegia, and deafness without neurological deterioration for more than 20 years. The clinical features of previously documented patients with the homozygous SLC25A15 mutation demonstrated that genotype did not simply correlate with clinical severity. The phenotypic variability might depend on other factors, such as dietary and other genetic ones.

本文言語英語
ページ(範囲)332-335
ページ数4
ジャーナルBrain and Development
28
5
DOI
出版ステータス出版済み - 6 2006

All Science Journal Classification (ASJC) codes

  • 小児科学、周産期医学および子どもの健康
  • 発達神経科学
  • 臨床神経学

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