[P49] Poster Presentation
metabolic disease 4

Fri. Jun 16, 2017 6:05 PM - 6:35 PM Poster (3F Event Haｌｌ)

Chair:Motohiro Akagi(Department of Pediatrics, Nissay Hospital, Osaka, Japan)

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[P-267] The early ketogenic diets may prevent developmental delay in a case of GLUT1 deficiency syndrome.

^○Go Shimomura¹, Kotaro Yuge¹, Masao Suda¹, Rumiko Okabe¹, Ikuhiko Sibuya¹, Shinichiro Nagamitsu¹, Nobuhiko Okamoto² (1.Department of pediatrics and child health, Kurume University school of medicine, Kurume, Japan, 2.Department of medical Genetics, Osaka Medical Center and Research Institute for maternal and Child health, osaka, Japan)

[P-268] Adult cases of glucose transporter 1 deficiency syndrome

^○Shin Nabatame^1,2, Tomoyo Yamashita^1,2, Mika Hirotsune^1,2, Akito Watanabe^1,2, Junpei Tanigawa^1,2, Yoshiko Iwatani^1,2,3, Kouji Tominaga^1,2,3, Kuriko Shimono^1,2,3, Keiichi Ozono^1,2 (1.Department of Pediatrics, Graduate School of Medicine, Osaka University, Suita, Japan, 2.Epilepsy Center, Osaka University Hospital, Suita, Japan, 3.Division of Developmental Neuroscience, United Graduate School of Child Development, Osaka University, Suita, Japan)

[P-269] Modified Atkins diet and TRH therapy for a case with glucose transporter type 1 deficiency syndrome

^○Miyuki Toyono¹, Yukio Sawaishi¹, Shin Nabatame², Kuriko Shimono², Hirokazu Oguni³ (1.Akita Prefectural Center on Development and Disability, Akita, Japan, 2.Graduate School of Medicine / Faculty of Medicine Depertment of Pediatrics, Osaka, Japan, 3.Tokyo Women's Medical University Pediatrics, Tokyo, Japan)

[P-270] A case of Pompe disease with posterior spinal correction and fusion surgery for myogenic scoliosis.

^○Hiroyuki Yamada¹, Masayoshi Oguri², Aya Narita¹, Yoshihiro Maegaki¹ (1.Division of Child Neurology, Institute of Neurological Science, Tottori University Faculty of Medicine, Yonago, Japan, 2.Department of Pathobiological Science and Technology, Faculty of Medicine, Tottori University, Yonago, Japan)

[P-271] Nerve ultrasound and electrophysiology in mucopolysaccharidosis 2

^○Misaki Matsumura^1,2, Takuya Hayashida¹, Ayako Itakura¹, Masayoshi Ooguri³, Aya Narita¹, Yoshihiro Maegaki¹ (1.Division of Child Neurology Institute of Neurological Science, Tottori University Faculty of Medicine, Tottori, Japan, 2.Department of Pediatrics, Shimane University School of Medicine, Shimane, Japan, 3.Department of Pathobiological Science and Technology, School of Health Sciences, Tottori University Faculty of Medicine, Tottori, Japan)

[P-272] A suspected abused infant who was later diagnosed as osteogenesis imperfecta type 1 clinically.

^○Yoshitaka Oyama, Ayako Yamamoto, Masamune Sakamoto, Itaru Tateishi, Michihiro Hatano, Mari Iwamoto (Division of Pediatrics, Saiseikai Yokohamashi Tobu Hospital, Yokohama, Japan)