Zobrazeno 1 - 10
of 17
pro vyhledávání: '"Saccharopinuria"'
Autor:
Masahide Yazaki, Ryusei Nishigori, Yasuyuki Takai, Akihiro Kawata, Toshihiro Ohura, Shinsuke Tobisawa, Tomiko Kuhara, Ryohei Norioka, Asuka Funai, Kazushi Takahashi, Masayoshi Nagao, Kazuhito Miyamoto
Publikováno v:
Intractable Rare Dis Res
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
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a64940e36b82d3d3a70eade4e8b924f1
https://europepmc.org/articles/PMC8122307/
https://europepmc.org/articles/PMC8122307/
Autor:
Fengyang Wang, Yuwei Chang, Fengxia Zhang, Qiwen Gan, Min Wang, Guodong Wang, Zhaonan Ban, Chonglin Yang, Weixiang Guo, Yudong Jing, Shaohuan Wu, Xin Wang, Ye Guo, Wenfeng Qian, Ruofeng Tang, Liyuan Zhao, Junxiang Zhou, Qian Zhang
Publikováno v:
The Journal of Cell Biology
Defective lysine catabolism leads to two types of hyperlysinemia, but the mechanisms are unclear. Zhou et al. reveal that accumulation of saccharopine, an intermediate of lysine catabolism, leads to defective development of Caenorhbditis elegans and
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Autor:
Georg F. Hoffmann, Stefan Kölker
Publikováno v:
Inborn Metabolic Diseases ISBN: 9783662497692
Inborn Metabolic Diseases ISBN: 9783642157196
Inborn Metabolic Diseases ISBN: 9783662631225
Inborn Metabolic Diseases ISBN: 9783642157196
Inborn Metabolic Diseases ISBN: 9783662631225
Ten inborn errors of metabolism are described in this chapter.Four of them, hyperlysinaemia/saccharopinuria, hydroxylysinuria, 2-amino-/2-oxoadipic aciduria, and glutaric aciduria type III, may be devoid of clinical significance, but some patients ar
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::dcaa8a73592b86408ecb3438d1173ab4
https://doi.org/10.1007/978-3-662-49771-5_22
https://doi.org/10.1007/978-3-662-49771-5_22
Publikováno v:
The Journal of Pediatrics. 82:54-57
Saccharopinuria, a newly found disorder of lysine metabolism in man, has so farbeen described in two slightly or moderately retarded patients. In each the fasting plasma lysine concentration is about ten times normal, and each one excretes large amou
Autor:
Thôrsten A. Fjellstedt, Maurice Ogur
Publikováno v:
Journal of Bacteriology. 101:108-117
Yeast supersuppressor genes capable of masking the effects of several lysine mutant genes ( ly 1-1 , ly 9-1 , ly 2-1 ) were studied with respect to their effects on the respective enzymes (saccharopine dehydrogenase, saccharopine reductase, and α-am
Publikováno v:
Enzyme. 29(4)
Several lines of evidence are presented that an entity is present in mitochondria which converts lysine and carbamylphosphate to homocitrulline, distinct from the ornithine transcarbamylase (OTC): lack of inhibition by lysine of OTC with ornithine as
Autor:
R. A. Chalmers, A. M. Lawson
Publikováno v:
Organic Acids in Man ISBN: 9789400957800
L-Lysine is primarily metabolized in mammals via saccharopine (Fig. 13.1) in the presence of 2-oxoglutarate (Higashino et al., 1965; Fellows and Lewis, 1973). An alternative pathway, via 2-keto-6-aminocaproic acid and pipecolic acid, also occurs and
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::9afa201062cf04c969607f1952c7bc22
https://doi.org/10.1007/978-94-009-5778-7_13
https://doi.org/10.1007/978-94-009-5778-7_13
Publikováno v:
The Journal of pediatrics. 95(2)
A 7-year-old boy with speech delay, hyperactive behavior, and minor neurologic abnormalities had been found in the past to have "intermittent cystinuria." A more detailed investigation revealed hyperlysinemia and hyperlysinuria, with lesser increases
Publikováno v:
Pediatric research. 8(1)
Extract: Elevated levels of saecharopine, lysine, and citrulline in urine and plasma were observed in a patient suffering from saccharopinuria. Using radioisotope methods the lysine-degradative enzymes, lysine-oxoglutarate reductase and saecharopine