Session Details

[P1-06]Poster Session 1-06 Metabolic and Mitochondrial Disorders

Thu. Dec 18, 2025 6:00 PM - 7:00 PM JST
Thu. Dec 18, 2025 9:00 AM - 10:00 AM UTC
Poster Room 2 (315, 3F, PACIFICO Yokohama)

[P1-06-1]Identification of novel pathogenic deep intronic variants in undiagnosed mitochondrial disease patients

Yukiko Yatsuka1, Yoshihito Kishita1,2, Kohta Nakamura1, Ayumu Sugiura1, Atsuko Imai-Okazaki1, Akira Ohtake3,4, Kei Murayama1, Yasushi Okazaki1 (1.Diagnostics and Therapeutics of Intractable Diseases, Intractable Disease Research Center, Graduate School of Medicine, Juntendo University, 2.Department of Life Science, Faculty of Science and Engineering, Kindai University, 3.Department of Pediatrics, Saitama Medical University, 4.Department of Clinical Genomics, Saitama Medical University)

[P1-06-2]QT Prolongation in Mild Propionic Acidemia with PCCB Variants: A Retrospective Study from a Single Center

Yasuaki Yasuda1, Yoko Nakajima1, Yuta Sudo1, Katsuyuki Yokoi2, Tetsuya Ito1 (1.Department of Pediatrics, Fujita Health University School of Medicine, Toyoake, Japan, 2.Department of Pediatrics, Fujita Health University Okazaki Medical Center, Okazaki, Japan)

[P1-06-3]Association between non-alcoholic fatty liver disease risk SNP variants and lipid metabolism

Hiroaki Ikezaki1,2,3, Ryoko Nakashima1, Yoshitaka Etoh1, Nobuyuki Shimono1, Schaefer Ernst J2 (1.Department of General Internal Medicine, Kyushu University Hospital, 2.Tufts University, 3.Department of Internal Medicine, Haradoi Hospital)

[P1-06-4]Bilateral Cochlear Implantation in a MELAS Patient with the mitochondrial DNA Variant, A3243G

Shujiro Minami1,2, Wonjin Yang1, Satomi Inoue3, Haruka Murakami3, Kiyomitsu Nara2, Tatsuo Matsunaga2,3, Kimitaka Kaga2 (1.Department of Otolaryngology, NHO Tokyo Medical Center, Tokyo, Japan, 2.National Institute of Sensory Organs, NHO Tokyo Medical Center, Tokyo, Japan, 3.Department of Medical Genetics, NHO Tokyo Medical Center, Japan)

[P1-06-5]Biallelic TFRC Variants Cause Neonatal-Onset Multisystem Mitochondrial Disease: The First Human Case Report

Shino Shimada1, Yatsuka Yukiko3, Takato Akiba2, Shimpei Matsuda2, Natsuki Okawa2, Hiromichi Shoji2, Yasushi Okazaki3, Kei Murayama2,3 (1.Medical Genome Center, Division of Genomic Medicine, National Institute of Global Health and Medicine, 2.Department of Pediatrics and Adolescent Medicine, Juntendo University Graduate School of Medicine, 3.Diagnostics and Therapeutics of Intractable Diseases, Intractable Disease Research Center, Juntendo University Graduate School of Medicine)

[P1-06-6]Genetic Analysis in Hypercholesterolemia

Michishige Terasaki1, Mikiko Izumi2,3, Shinji Koba4, Makoto Ohara1, Yusaku Mori1, Tomoyasu Fukui1, Akihiko Sekizawa2,3, Sho-Ichi Yamagishi1 (1.Division of Diabetes, Metabolism and Endocrinology, Showa Medical University School of Medicine, Tokyo, Japan, 2.Center for Clinical Genetics, Showa Medical University Hospital, Tokyo, Japan, 3.Department of Obstetrics and Gynecology, Showa Medical University School of Medicine, Tokyo, Japan, 4.Department of Medicine, Division of Cardiology, Showa Medical University School of Medicine, Tokyo, Japan)

[P1-06-7]Energy balances in carriers of recessive metabolic diseases

Kazuro Shimokawa1, Daisuke Komura1, Yoko Kuroki2, Shumpei Ishikawa1, Hiroshi Tanaka1, Yuko Oho3 (1.The University of Tokyo, Tokyo, Japan, 2.National Center for Child Health and Development, Tokyo, Japan, 3.Jissen Womenʼs University, Tokyo, Japan)

[P1-06-8]Changes in the Genetic Variant Spectrum of FAODs After Implementation of Nationwide Newborn Screening

Hironori Kobayashi1, Miki Matsui2, Hideo Sasai3, Hideki Matsumoto4, Mai Mori4, Takashi Hamasaki5 (1.Laboratories Division, Shimane University Hospital, Izumo, Japan, 2.Department of Pediatrics, Hyogo Medical University, Kobe, Japan, 3.Department of Early Diagnosis and Preventive Medicine for Rare Intractable Pediatric Diseases, Graduate School of Medicine, Gifu University, Gifu, Japan, 4.Department of Pediatrics, Graduate School of Medicine, Gifu University, Gifu, Japan, 5.Department of Pediatrics, Graduate School of Medicine Osaka Metropolitan University, Osaka, Japan)

[P1-06-9]Genetic and Endocrine Factors Affecting Impaired Growth in Pediatric Mitochondrial Diseases

Hideaki Yagasaki, Hiromune Narusawa, Daisuke Watanabe, Chihiro Onomichi, Yasue Horiuchi, Hiroki Ishiguro (Center for Genetic Diseases, University of Yamanashi Hospital, Yamanashi, Japan)

[P1-06-10]A Case of Mucopolysaccharidosis Type 4A Diagnosed by Genetic Analysis and Treated with Elosulfase alfa at 19 Months

Kiiko Iketani1, Aya Nishikiori1, Yu Nishibayashi1, Ayaka Moriwaki1, Mai Kashisaka1, Tomoki Saito1, Kandai Nodu2, Naoya Morisada3, Kayo Ozaki1 (1.Department of Endocrinology and Metabolism, Hyogo Prefectural Kobe Childrenʼs Hospital, 2.Department of Pediatrics, Kobe University Graduate School of Medicine, 3.Department of Clinical Genetics, Hyogo Prefectural Kobe Childrenʼs Hospital)

[P1-06-11]Oral taurine therapy on diabetes in patients with mitochondrial disease: A retrospective study

Takashi Kurashige1,2, Tsuguka Matsuda3, Tomomi Murao1, Natsumi Himeno4, Mitsunobu Kubota5, Riho Okada1,2, Tomohiko Ohshita1, Hirofumi Maruyama2 (1.Department of Neurology, NHO Kure Medical Center and Chugoku Cancer Center, Kure, Japan, 2.Department of Clinical Neuroscience and Therapeutics, Hiroshima University Graduate School of Biomedical and Health Sciences, Hiroshima, Japan, 3.Department of Endocrinology and Metabolism, Hiroshima Red Cross Hospital and Atomic bomb Survivors Hospital, Hiroshima, Japan, 4.Department of Diabetes and Metabolic Disease, JA Hiroshima General Hospital, Hatsukaichi, Japan, 5.Department of Endocrinology and Diabetes, NHO Kure Medical Center and Chugoku Cancer Center, Kure, Japan)