Presentation Information
[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)