Saccharopinuria accompanied by hyperammonemia and hypercitrullinemia presented with elderly-onset epilepsy, progressive cognitive decline, and gait ataxia

DOI Web Site 参考文献14件
  • Norioka Ryohei
    Department of Neurology, Tokyo Metropolitan Neurological Hospital, Tokyo, Japan.
  • Tobisawa Shinsuke
    Department of Neurology, Tokyo Metropolitan Neurological Hospital, Tokyo, Japan.
  • Nishigori Ryusei
    Department of Neurology, Kyoto University Graduate School of Medicine, Kyoto, Japan.
  • Kuhara Tomiko
    Japan Clinical Metabolomics Institute, Ishikawa, Japan.
  • Yazaki Masahide
    Neurohealth Innovation Division, Institute for Biomedical Sciences, Shinshu University, Matsumoto, Japan.
  • Nagao Masayoshi
    Department of Pediatrics, Hokkaido Medical Center, Hokkaido, Japan.
  • Ohura Toshihiro
    Division of Clinical Laboratory, Sendai City Hospital, Sendai, Japan.
  • Takai Yasuyuki
    Department of Ophthalmology, Juntendo University Urayasu Hospital, Tokyo, Japan.
  • Funai Asuka
    Department of Neurology, Tokyo Metropolitan Neurological Hospital, Tokyo, Japan.
  • Miyamoto Kazuhito
    Department of Neurology, Tokyo Metropolitan Neurological Hospital, Tokyo, Japan.
  • Kawata Akihiro
    Department of Neurology, Tokyo Metropolitan Neurological Hospital, Tokyo, Japan.
  • Takahashi Kazushi
    Department of Neurology, Tokyo Metropolitan Neurological Hospital, Tokyo, Japan.

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<p>We report a case of saccharopinuria with hyperammonemia and hypercitrullinemia in a Japanese woman who presented with elderly-onset epilepsy, progressive cognitive decline, and gait ataxia. Blood amino acid analysis revealed an increase in citrulline, cystine, and lysine levels, and urine amino acid analysis showed increased citrulline and cystine levels. Urine metabolomics revealed an increased saccharopine level, leading to the definitive diagnosis of saccharopinuria. In western blots of liver biopsy samples, normal citrin levels were observed, suggesting that adult-onset citrullinemia type 2 (CTLN2) was not present. In addition, decreased argininosuccinate synthetase (ASS) levels were observed, and ASS1 gene, a causative gene for citrullinemia type 1 (CTLN1), was analyzed, but no gene mutations were found. Because the causes of hypercitrullinemia were not clear, it might be secondary to saccharopinuria. Muscle biopsy findings of the biceps brachii revealed diminished cytochrome c oxidase (COX) activity, mitochondrial abnormalities on electron microscopy and p62-positive structures in immunohistochemical analyses. Saccharopinuria is generally considered a benign metabolic variant, but our case showed elevated lysine and saccharopine levels causing ornithine circuit damage, mitochondrial dysfunction, and autophagy disorders. This may lead to so far unknown neurological disorders. </p>

収録刊行物

  • Intractable & Rare Diseases Research

    Intractable & Rare Diseases Research 10 (2), 126-130, 2021-05-31

    特定非営利活動法人 バイオ＆ソーシャル・サイエンス推進国際研究交流会

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