Session Details

[O18]Metabolic and Mitochondrial Disorders

Fri. Nov 20, 2026 3:30 PM - 4:30 PM JST
Fri. Nov 20, 2026 6:30 AM - 7:30 AM UTC
Room 4 (Meeting Room 1, Exhibition Building, Sendai International Center)
Chair: Motomichi Kosuga (National Center for Child Health and Development), Masayuki Yoshida (Institute of Science Tokyo)

[O18-01]A candidate biomarker for ML: reduced urinary heparan sulfate after unrelated cord blood transplantation

Hiroaki To, Yasuyuki Fukuhara, Kotaro Sakaya, Kenji Kurosawa, Motomichi Kosuga (National Center for Child Health and Development)

[O18-02]Non-coding spliceosomal defects in mitochondrial disease: evidence from RNU4-2 andRNU4ATAC

Kohta Nakamura1, So Masaki2, Yoshihito Kishita1, Ayumu Sugiura1, Atsuko Okazaki1, Naoyuki Matsumoto1, Yohei Sugiyama1,3, Hiroshi Matsumoto4, Akira Ohtake4, Kei Murayama1, Naoyuki Kataoka2, Yasushi Okazaki1 (1. Diagnostics and Therapeutics of Intractable Diseases, Intractable Disease Research Center, Juntendo University, Graduate School of Medicine, 2. Graduate School of Agricultural and Life Sciences, Department of Animal Resource Sciences, Laboratory of Cellular Biochemistry, The University of Tokyo, 3. Department of Pediatrics, Juntendo University, 4. Department of Pediatrics, Saitama Medical University)

[O18-03]Clinical Spectrum and Liver Transplant Outcomes of DGUOK-Related MTDPS in Japan: Comparison With an International Cohort

Tomoki Saito1, Mai Kashisaka2, Hisato Aihara1, Yohei Sugiyama1,3, Kota Nakamura3, Yoshihito Kishita3, Yasushi Okazaki3, Kei Murayama1,3 (1. Department of Pediatrics and Adolescent Medicine, Juntendo University Hospital, Tokyo, Japan, 2. Department of Pediatrics, Juntendo University Urayasu Hospital, Chiba, Japan, 3. Diagnostics and Therapeutics of Intractable Diseases, Intractable Disease Research Center, Graduate School of Medicine, Juntendo University, Tokyo, Japan)

[O18-04]Genetic counseling and reproductive options for mitochondrial diseases: a retrospective review of 24 families.

Megumi Saito-Tsuruoka1, Midori Kimura1, Eri Shijiki2, Junko Yotsumoto1, Nozomi Uemura1,3, Akira Namba1,3, Sayaka Suzuki-Ajihara1,4, Yusuke Narizuka1,5, Yosuke Mizuno1,5, Kei Murayama6, Yasushi Okazaki6, Naoki Hayashi7, Hiroshi Matsumoto1,4, Chikahiko Numakura1,4, Akira Ohtake1,4 (1. Department of Clinical Genomics, Saitama Medical University, 2. Department of Clinical Genomics, The University of Tokyo Hospital, 3. Department of Pediatrics, Saitama Medical University, 4. Department of Obstetrics and Gynecology, Saitama Medical University, 5. Division of Morphological Science, Biomedical Research Center, Saitama Medical University, 6. Diagnostics and therapeutic of intractable diseases, Intractable Disease Research Center, Juntendo University, 7. Women's Clinic Fujimino)

[O18-05]Antisense oligonucleotide-mediated skipping of an 84-bp pseudoexon restores PCC activity in propionic acidemia

Eriko Totsune1, Yoichi Wada1,2, Yasuko Mikami-Saito1, Natsuko Arai-Ichinoi1, Naoya Saijo1, Jun Takayama3,4,5,6, Yasuhiro Maeda7, Yoko Nakajima8, Osamu Ohara9, Shigeo Kure1,6,10, Atsuo Kikuchi1,6 (1. Department of Pediatrics, Tohoku University Graduate School of Medicine, 2. Department of Medical Science and Innovation, SiRIUS Institute of Medical Research, Tohoku University, 3. Department of AI and Innovative Medicine, Tohoku University Graduate School of Medicine, 4. Tohoku Medical Megabank organization, Tohoku University, 5. Statistical Genetics Team, RIKEN Center for Advanced Intelligence Project, 6. Department of Rare Disease Genomics, Tohoku University Graduate School of Medicine, 7. Open Facility Center, Fujita Health University, 8. Department of Pediatrics, Fujita Health University School of Medicine, 9. Department of Applied Genomics, Kazusa DNA Research Institute, 10. Miyagi Children's Hospital)

[O18-06]A Founder Tandem Duplication at the APOC4-APOC2 Locus in Severe Hypertriglyceridemia with Markedly Reduced apoC-II

Satoru Takase1,2, Hiroyuki Ishiura3, Makoto Kurano1, Masaki Tanaka1, Mikio Takanashi1, Yoko Iizuka1, Masumi Hara4, Shoji Tsuji3, Sachiko Okazaki1, Hiroaki Okazaki1,4 (1. Department of Diabetes and Metabolic Diseases, The University of Tokyo Hospital, Tokyo, Japan, 2. The Institute of Medical Science, Asahi Life Foundation, Tokyo, Japan, 3. Department of Neurology, The University Of Tokyo Hospital, Tokyo, Japan, 4. Fourth Department of Internal Medicine, Teikyo University Hospital Mizonokuchi, Japan)