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...

Celý popis

Uloženo v:
Podrobná bibliografie
Vydáno v:Intractable Rare Dis Res
Hlavní autoři: Norioka, Ryohei, Tobisawa, Shinsuke, Nishigori, Ryusei, Kuhara, Tomiko, Yazaki, Masahide, Nagao, Masayoshi, Ohura, Toshihiro, Takai, Yasuyuki, Funai, Asuka, Miyamoto, Kazuhito, Kawata, Akihiro, Takahashi, Kazushi
Médium: Artigo
Jazyk:Inglês
Vydáno: International Research and Cooperation Association for Bio & Socio-Sciences Advancement 2021
Témata:
Case Report
On-line přístup: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
Tagy: Přidat tag
Žádné tagy, Buďte první, kdo otaguje tento záznam!

Podobné jednotky