[O13] 代謝・神経変性疾患 1

[O13-3] The CoQ10 level of a patient with biallelic 4-hydroxyphenylpyruvate dioxygenase-like protein (HPDL) variants was low.

^○Yurika Numata-Uematsu¹, Mitsugu Uematsu¹, Atsuo Kikuchi¹, Akira Ohtake², Chika Watanabe³, Hitoshi Osaka³, Ken Inoue⁴ (1.Department of Pediatrics, Tohoku University School of Medicine, Sendai, Japan, 2.Department of Clinical Genomics & Pediatrics, Faculty of Medicine, Saitama Medical University, 3.Department of Pediatrics, Jichi Medical University, 4.Department of Mental Retardation and Birth Defect Research, National Institute of Neuroscience, National Center of Neurology and Psychiatry)