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

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...

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Dades bibliogràfiques
Publicat a:Intractable Rare Dis Res
Autors principals: Norioka, Ryohei, Tobisawa, Shinsuke, Nishigori, Ryusei, Kuhara, Tomiko, Yazaki, Masahide, Nagao, Masayoshi, Ohura, Toshihiro, Takai, Yasuyuki, Funai, Asuka, Miyamoto, Kazuhito, Kawata, Akihiro, Takahashi, Kazushi
Format: Artigo
Idioma:Inglês
Publicat: International Research and Cooperation Association for Bio & Socio-Sciences Advancement 2021
Matèries:
Case Report
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC8122307/
https://ncbi.nlm.nih.gov/pubmed/33996359
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.5582/irdr.2021.01003
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