[O18] Oral Presentation
metabolic disease 1

Fri. Jun 16, 2017 7:50 AM - 8:40 AM Room No.7 (10F Conference Room 1004-1005)

Chair:Keiko Yanagihara(Department of Pediatric Neurology, Osaka Medical Center for Maternal and Child Health, Osaka, Japan), Yusuke Hamada(Japan Community Health care oraganization Osaka Hospital, Osaka, Japan)

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[O-104] A patient with complex I deficiency who was responsive to coenzyme Q10

^○Fumihito Nozaki¹, Tomohiro Kumada¹, Minoru Shibata¹, Annri Hayashi¹, Ikuko Hiejima¹, Tatsuya Fujii¹, Mioko Mori¹, Saeko Sasaki¹, Kenji Inoue¹, Kei Murayama², Akira Ohtake³ (1.Department of Pediatrics, Shiga Medical Center for Children, Shiga, Japan, 2.Department of Metabolism, Chiba Children Hospital. Chiba-shi, Japan, 3.Department of Pediatrics, Faculty of Medicine, Saitama Medical University)

[O-105] The clinical efficacy of chelators and zinc in the treatment of Wilson disease over the past decade.

^○Hiroki Hoshino, Hiroe Konishi, Ayako Ogawa, Norikazu Shimizu, Tsugutoshi Aoki (Dpartment of Pediatrics, Toho University, Ohashi Medical Center, Tokyo, Japan)

[O-106] The sisters of Glut1-DS who were difficult to continue modified Atkins diet therapy

^○Megumi Hoshina¹, Hiroshi Mishima¹, Shin Nabatame^2,3, Kuriko Kagitani-shimono^2,4 (1.Ohara General Hospital,Fukushima,Japan, 2.Department of Pediatrics,Graduate School of Medicine,Osaka University,Osaka,Japan, 3.Epilepsy Center,Osaka University Hospital,Osaka,Japan, 4.United Graduate School of Child Development,Osaka University,Osaka,Japan)

[O-107] Simultaneous measurement of monoamines and 5-methyltetrahydrofolate in the cerebrospinal fluid

^○Tomoyuki Akiyama¹, Yumiko Hayashi¹, Yoshiyuki Hanaoka¹, Takashi Shibata¹, Mari Akiyama¹, Kazuyuki Nakamura², Yu Tsuyusaki³, Masaya Kubota⁴, Jun Tohyama⁵, Harumi Yoshinaga¹, Katsuhiro Kobayashi¹ (1.Department of Child Neurology, Okayama University Hospital, Okayama, Japan, 2.Department of Pediatrics, Yamagata University Faculty of Medicine, Yamagata, Japan, 3.Division of Neurology, Kanagawa Children's Medical Center, Yokohama, Japan, 4.Division of Neurology, National Center for Child Health and Development, Tokyo, Japan, 5.Department of Child Neurology, Nishi-Niigata Chuo National Hospital, Niigata, Japan)

[O-108] A case of dihydrolipoamide dehydrogenase deficiency with elevated citrulline on newborn screening

^○Hiroaki Ono¹, Rie Kawakita², Kimitoshi Nakamura³, Osamu Ohara⁴, Ryoji Fujiki⁴, Hideo Sasai⁵, Toshiyuki Fukao⁵, Miori Yuasa⁶, Yosuke Shigematsu⁶ (1.The Department of Pediatrics, Hiroshima Prefectural Hospital, Hiroshima, Japan, 2.Division of Pediatric Endocrinology and Metabolism, Osaka City General Hospital, Osaka, Japan, 3.Department of Pediatrics, Kumamoto University Graduate School of Medical Sciences, Kumamoto, Japan, 4.Department of Technology Development, Kazusa DNA Research Institute, Kisarazu, Japan, 5.Department of Pediatrics, Graduate School of Medicine, Gifu University, Gifu, Japan, 6.Department of Pediatrics, Faculty of Medical Sciences, University of Fukui, Fukui, Japan)