Session Details
[O43]一般演題(口演)43 代謝性疾患・変性疾患③
Sat. Jun 7, 2025 9:15 AM - 10:05 AM JST
Sat. Jun 7, 2025 12:15 AM - 1:05 AM UTC
Sat. Jun 7, 2025 12:15 AM - 1:05 AM UTC
第8会場
座長：今村 淳(岐阜県総合医療センター小児科),大西 秀典(岐阜大学大学院医学系研究科小児科学)
[O43-01]A case of Leigh encephalopathy due to biotinidase deficiency.
○Ichiri Sakuma, Yuichi Suzuki, Maki Nodera, Mika Yamada, Hayato Go (Department of Pediatrics, Fukushima Medical University, Fukushima, Japan)
[O43-02]Capillary leak syndrome in two patients with the mitochondrial ND3 T10191C variant
○Yurika Uematsu1, Moriei Shibuya1, Yu Katata1, Yoshitsugu Oikawa1, Yusuke Takezawa1, Kei Murayama2, Akira Ohtake3, Atsuo Kikuchi1, Mitsugu Uematsu1 (1.Department of Pediatrics, Tohoku University School of Medicine, 2.Diagnostics and Therapeutics of Intractable Diseases, Intractable Disease Research Center & Department of Pediatrics, Graduate School of Medicine, Juntendo University, 3.Department of Clinical Genomics & Pediatrics, Faculty of Medicine, Saitama Medical University)
[O43-03]Evaluation of the efficacy of 5-ALA for LS in mice loss of Ndufs4 function
○Syuhei Kimura1, Hideaki Shiraishi2, Sachiko Nakakubo1, Takeru Goto1, Kiyoshi Egawa1 (1.Department of Pediatrics, Hokkaido University, Sapporo, Japan, 2.Dokkyo Medical University, Department of Pediatrics, Tochigi, Japan)
[O43-04]A case of Lesch-Nyhan syndrome complicated by cervical cord injury.
○Toshiyuki Shinozaki1, Rena Katayama2, Kiyoshi Iwazaki2, Sho Yamaguchi1, Takashi Okuda1, Saori Tanabe1, Toshiyuki Kimura1 (1.Department of Pediatrics, Nihonkai General Hospital, Yamagata, Japan, 2.Department of orthopedics, Nihonkai General Hospital, Yamagata ,Japan)
[O43-05]A case of MT-ATP6-associated Leigh syndrome with elevation of C5-OH in the new born screening
○Hitoshi Sato1, Yoshitaka Mitsui1, Azusa Kobayashi1, Sumihito Togi2, Hiroki Ura2, Masatsune Itoh1, Yo Niida2, Yasuhiro Ikawa1 (1.Department of Pediatrics, Kanazawa Medical University, Ishikawa, Japan, 2.Center for Clinical Genomics, Kanazawa Medical University Hospital, Ishikawa, Japan)