Pyridoxal in the Cerebrospinal Fluid May Be a Better Indicator of Vitamin B6–dependent Epilepsy Than Pyridoxal 5′-Phosphate

Akiyama, Tomoyuki; Hyodo, Yuki; Hasegawa, Kosei; Oboshi, Taikan; Imai, Katsumi; Ishihara, Naoko; Dowa, Yuri; Koike, Takayoshi; Yamamoto, Toshiyuki; Shibasaki, Jun; Shimbo, Hiroko; Fukuyama, Tetsuhiro; Takano, Kyoko; Shiraku, Hiroshi; Takeshita, Saoko; Okanishi, Tohru; Baba, Shimpei; Kubota, Masaya; Hamano, Shin-ichiro; Kobayashi, Katsuhiro

doi:10.1016/j.pediatrneurol.2020.08.020

Permalink : https://ousar.lib.okayama-u.ac.jp/61024

ID	61024
フルテキストURL	fulltext.pdf 340 KB Fig1.tif 198 KB SupplementaryMaterial1.pdf 150 KB SupplementaryMaterial2.pdf 289 KB SupplementaryMaterial3.pdf 371 KB
著者	Akiyama, Tomoyuki Department of Child Neurology, Okayama University Hospital Kaken ID researchmap Hyodo, Yuki Department of Child Neurology, Okayama University Hospital Hasegawa, Kosei Department of Pediatrics, Okayama University Hospital ORCID Kaken ID publons researchmap Oboshi, Taikan Department of Pediatric Neurology, Osaka Women’s and Children’s Hospital Imai, Katsumi Department of Pediatrics, NHO Shizuoka Institute of Epilepsy and Neurological Disorders Ishihara, Naoko Department of Pediatrics, Fujita Health University School of Medicine Dowa, Yuri Department of Neurology, Gunma Children’s Medical Center Koike, Takayoshi Department of Pediatrics, NHO Shizuoka Institute of Epilepsy and Neurological Disorders Yamamoto, Toshiyuki Institute of Clinical Genomics, Tokyo Women’s Medical University Shibasaki, Jun Department of Neonatology, Kanagawa Children’s Medical Center Shimbo, Hiroko Clinical Institute, Kanagawa Children’s Medical Center Fukuyama, Tetsuhiro Department of Pediatrics, Shinshu University Takano, Kyoko Center for Medical Genetics, Shinshu University Hospital Shiraku, Hiroshi Department of Pediatrics, JA Toride Medical Center Takeshita, Saoko Department of Pediatrics, Yokohama City University Medical Center Okanishi, Tohru Department of Child Neurology, Comprehensive Epilepsy Center, Seirei Hamamatsu General Hospital Baba, Shimpei Department of Child Neurology, Comprehensive Epilepsy Center, Seirei Hamamatsu General Hospital Kubota, Masaya Division of Neurology, National Center for Child Health and Development Hamano, Shin-ichiro Division of Neurology, Saitama Children’s Medical Center Kobayashi, Katsuhiro Department of Child Neurology, Okayama University Hospital Kaken ID publons researchmap
抄録	Background We aimed to demonstrate the biochemical characteristics of vitamin B6–dependent epilepsy, with a particular focus on pyridoxal 5′-phosphate and pyridoxal in the cerebrospinal fluid. Methods Using our laboratory database, we identified patients with vitamin B6–dependent epilepsy and extracted their data on the concentrations of pyridoxal 5′-phosphate, pyridoxal, pipecolic acid, α-aminoadipic semialdehyde, and monoamine neurotransmitters. We compared the biochemical characteristics of these patients with those of other epilepsy patients with low pyridoxal 5′-phosphate concentrations. Results We identified seven patients with pyridoxine-dependent epilepsy caused by an ALDH7A1 gene abnormality, two patients with pyridoxal 5′-phosphate homeostasis protein deficiency, and 28 patients with other epilepsies with low cerebrospinal fluid pyridoxal 5′-phosphate concentrations. Cerebrospinal fluid pyridoxal and pyridoxal 5′-phosphate concentrations were low in patients with vitamin B6–dependent epilepsy but cerebrospinal fluid pyridoxal concentrations were not reduced in most patients with other epilepsies with low cerebrospinal fluid pyridoxal 5′-phosphate concentrations. Increase in 3-O-methyldopa and 5-hydroxytryptophan was demonstrated in some patients with vitamin B6–dependent epilepsy, suggestive of pyridoxal 5′-phosphate deficiency in the brain. Conclusions Low cerebrospinal fluid pyridoxal concentrations may be a better indicator of pyridoxal 5′-phosphate deficiency in the brain in vitamin B6–dependent epilepsy than low cerebrospinal fluid pyridoxal 5′-phosphate concentrations. This finding is especially helpful in individuals with suspected pyridoxal 5′-phosphate homeostasis protein deficiency, which does not have known biomarkers.
キーワード	ALDH7A1 PLPBP PLPHP PROSC Pyridoxal 5′-phosphate homeostasis protein deficiency Pyridoxine-dependent epilepsy
備考	© 2020 Elsevier Inc.. This manuscript version is made available under the CC-BY-NC-ND 4.0 License.http://creativecommons.org/licenses/by-nc-nd/4.0/.This is the accepted manuscript version. The formal published version is available at https://doi.org/10.1016/j.pediatrneurol.2020.08.020
発行日	2020-12
出版物タイトル	Pediatric Neurology
巻	113巻
出版者	Elsevier
開始ページ	33
終了ページ	41
ISSN	0887-8994
NCID	AA10472238
資料タイプ	学術雑誌論文
言語	英語
OAI-PMH Set	岡山大学
論文のバージョン	author
PubMed ID	32980745
DOI	10.1016/j.pediatrneurol.2020.08.020
Web of Science KeyUT	000591640100007
関連URL	isVersionOf https://doi.org/10.1016/j.pediatrneurol.2020.08.020
ライセンス	https://creativecommons.org/licenses/by-nc-nd/4.0/