- 著者
- Ryohei Norioka Shinsuke Tobisawa Ryusei Nishigori Tomiko Kuhara Masahide Yazaki Masayoshi Nagao Toshihiro Ohura Yasuyuki Takai Asuka Funai Kazuhito Miyamoto Akihiro Kawata Kazushi Takahashi
- 出版者
- International Research and Cooperation Association for Bio & Socio-Sciences Advancement
- 雑誌
- Intractable & Rare Diseases Research (ISSN:21863644)
- 巻号頁・発行日
- vol.10, no.2, pp.126-130, 2021-05-31 (Released:2021-06-03)
- 参考文献数
- 16
- 被引用文献数
- 3
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.
- 著者
- Ryusei Nishigori Yoko Warabi Yukiko Shishido-Hara Kazuo Nakamichi Yasuhiro Nakata Takashi Komori Eiji Isozaki
- 出版者
- The Japanese Society of Internal Medicine
- 雑誌
- Internal Medicine (ISSN:09182918)
- 巻号頁・発行日
- pp.3038-19, (Released:2019-07-31)
- 参考文献数
- 15
- 被引用文献数
- 5 9
The patient was a 74-year-old woman with rheumatoid arthritis who developed ataxia. MRI revealed T2-hyperintense lesions predominantly in the left middle cerebellar peduncle. Punctate or linear Gd enhancement was also observed on T1-weighted images. A brain biopsy was conducted and the pathology revealed a mild demyelinated lesion. PCR of biopsied brain tissues revealed the presence of JCV DNA, but JCV-infected oligodendroglia-like cells were not apparent on immunohistochemistry. Sensitive in-situ hybridization, however, detected three JCV-positive cells and the infiltration of CD4+ and CD8+ T cells and plasma cells was also observed. Immunosuppressants were tapered off and mirtazapine and mefloquine administered, resulting in a favorable outcome.