[O18] Oral Presentation
metabolic disease 1

[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)