[P11] Gene abnormality

[P-069] A case of creatine transporter deficiensy diagnosed by a family request

Anzu Noda¹, KOYAMA AKIKO¹, YUICHI ABE², HIROKO SHIMBO³, NORIKO AIDA⁴, TOMOHIDE GOTO⁵ (1.Department of Pediatrics, Saitama Citizen Medicalcenter, Saitama, Japan, 2.Department of Pediatrics, Saitama Medical University, Saitama, Japan, 3.Clinical Research Institude, Kanagawa Prefectural Children's Medical Center, Yokohama, Japan, 4.Department of radiology, Kanagawa Prefectural Children's Medical Center, Yokohama, Japan)