Saccharopinuria accompanied by hyperammonemia and hypercitrullinemia presented with elderly-onset epilepsy, progressive cognitive decline, and gait ataxia-Reference-Cited by-同舟云学术

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

Published:2021-05-31 Issue:2 Volume:10 Page:126-130
ISSN:2186-361X
Container-title:Intractable & Rare Diseases Research
language:en
Short-container-title:IRDR

Author:

Norioka Ryohei¹,Tobisawa Shinsuke¹,Nishigori Ryusei²,Kuhara Tomiko³,Yazaki Masahide⁴,Nagao Masayoshi⁵,Ohura Toshihiro⁶,Takai Yasuyuki⁷,Funai Asuka¹,Miyamoto Kazuhito¹,Kawata Akihiro¹,Takahashi Kazushi¹

Affiliation:

1. Department of Neurology, Tokyo Metropolitan Neurological Hospital, Tokyo, Japan.

2. Department of Neurology, Kyoto University Graduate School of Medicine, Kyoto, Japan.

3. Japan Clinical Metabolomics Institute, Ishikawa, Japan.

4. Neurohealth Innovation Division, Institute for Biomedical Sciences, Shinshu University, Matsumoto, Japan.

5. Department of Pediatrics, Hokkaido Medical Center, Hokkaido, Japan.

6. Division of Clinical Laboratory, Sendai City Hospital, Sendai, Japan.

7. Department of Ophthalmology, Juntendo University Urayasu Hospital, Tokyo, Japan.

Publisher

International Research and Cooperation Association for Bio & Socio-Sciences Advancement (IRCA-BSSA)

Subject

General Medicine

Link

https://www.jstage.jst.go.jp/article/irdr/10/2/10_2021.01003/_pdf

Reference16 articles.

1. 1. Dancis J, Hutzler J, Woody NC, Cox RP. Multiple enzyme defects in familial hyperlysinemia. Pediatr Res. 1976; 10:686-691.

2. 2. Dancis J, Hutzler J, Cox RP. Familial hyperlysinemia: Enzyme studies, diagnostic methods, comments on terminology. Am J Hum Genet. 1979; 31:290-299.

3. 3. Carson NA, Scally BG, Neill DW, Carré LJ. Saccharopinuria: A new inborn error of lysine metabolism. Nature 1968; 218:679.

4. 4. Houten SM, Te Brinke H, Denis S, Ruiter JP, Knegt AC, de Klerk JB, Augoustides-Savvopoulou P, Häberle J, Baumgartner MR, Coşkun T, Zschocke J, Sass JO, Poll-The BT, Wanders RJ, Duran M. Genetic basis of hyperlysinemia. Orphanet J Rare Dis. 2013; 8:57.

5. 5. Summar ML, Koelker S, Freedenberg D, Le Mons C, Haberle J, Lee HS, Kirmse B; European Registry and Network for Intoxication Type Metabolic Diseases (E-IMD); Members of the Urea Cycle Disorders Consortium (UCDC). The incidence of urea cycle disorders. Mol Genet Metab. 2013; 110:179-180.

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