Leigh syndrome-like MRI changes in a patient with biallelic HPDL variants treated with ketogenic diet

Biallelic 4-hydroxyphenylpyruvate dioxygenase-like protein (HPDL) variants were recently reported as a cause of progressive and incurable neurodegenerative diseases ranging from neonatal-onset leukoencephalopathy with severe neurodevelopmental delay to spastic paraplegia. Although the physiological...

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Main Authors:	Yurika Numata-Uematsu, Mitsugu Uematsu, Toshiyuki Yamamoto, Hirotomo Saitsu, Yu Katata, Yoshitsugu Oikawa, Naoya Saijyo, Takehiko Inui, Kei Murayama, Akira Ohtake, Hitoshi Osaka, Jun-ichi Takanashi, Shigeo Kure, Ken Inoue
Format:	Article
Language:	English
Published:	Elsevier 2021-12-01
Series:	Molecular Genetics and Metabolism Reports
Subjects:	HPDL Leukoencephalopathy Leigh syndrome Ketogenic diet Mitochondria
Online Access:	http://www.sciencedirect.com/science/article/pii/S221442692100094X

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spelling	doaj-60520ce8ac2444ce9358043c7bf7e4d52021-09-07T04:13:24ZengElsevierMolecular Genetics and Metabolism Reports2214-42692021-12-0129100800Leigh syndrome-like MRI changes in a patient with biallelic HPDL variants treated with ketogenic dietYurika Numata-Uematsu0Mitsugu Uematsu1Toshiyuki Yamamoto2Hirotomo Saitsu3Yu Katata4Yoshitsugu Oikawa5Naoya Saijyo6Takehiko Inui7Kei Murayama8Akira Ohtake9Hitoshi Osaka10Jun-ichi Takanashi11Shigeo Kure12Ken Inoue13Department of Pediatrics, Tohoku University School of Medicine, Sendai, Japan; Corresponding author at: Department of Pediatrics, Tohoku University School of Medicine, 1-1 Seiryomachi, Aoba-ku, Sendai 980-8574, Japan.Department of Pediatrics, Tohoku University School of Medicine, Sendai, JapanInstitute of Medical Genetics, Tokyo Women's Medical University; Tokyo Women's Medical University Institute of Integrated Medical Sciences, Tokyo, JapanDepartment of Biochemistry, Hamamatsu University School of Medicine, Hamamatsu, JapanDepartment of Pediatrics, Tohoku University School of Medicine, Sendai, JapanDepartment of Pediatrics, Tohoku University School of Medicine, Sendai, JapanDepartment of Pediatrics, Tohoku University School of Medicine, Sendai, JapanDepartment of Pediatric Neurology, Miyagi Children’s Hospital, Sendai, JapanCenter for Medical Genetics and Department of Metabolism, Chiba Children’s Hospital, Chiba, JapanDepartment of Pediatrics & Clinical Genomics, Faculty of Medicine, Saitama Medical University, Saitama, Japan; Center for Intractable Diseases, Saitama Medical University Hospital, Saitama, JapanDepartment of Pediatrics, Jichi Medical University, Tochigi, JapanDepartment of Pediatrics, Tokyo Women’s Medical University Yachiyo Medical Center, Yachiyo, JapanDepartment of Pediatrics, Tohoku University School of Medicine, Sendai, JapanDepartment of Mental Retardation and Birth Defect Research, National Institute of Neuroscience, National Center of Neurology and Psychiatry, Tokyo, JapanBiallelic 4-hydroxyphenylpyruvate dioxygenase-like protein (HPDL) variants were recently reported as a cause of progressive and incurable neurodegenerative diseases ranging from neonatal-onset leukoencephalopathy with severe neurodevelopmental delay to spastic paraplegia. Although the physiological function of HPDL remains unknown, its subcellular localization in the mitochondria has been reported. Here, we report a case of HPDL-related neurological disease that was clinically and neuroimaging compatible with Leigh syndrome, previously unreported, and was treated with a ketogenic diet.http://www.sciencedirect.com/science/article/pii/S221442692100094XHPDLLeukoencephalopathyLeigh syndromeKetogenic dietMitochondria
collection	DOAJ
language	English
format	Article
sources	DOAJ
author	Yurika Numata-Uematsu Mitsugu Uematsu Toshiyuki Yamamoto Hirotomo Saitsu Yu Katata Yoshitsugu Oikawa Naoya Saijyo Takehiko Inui Kei Murayama Akira Ohtake Hitoshi Osaka Jun-ichi Takanashi Shigeo Kure Ken Inoue
spellingShingle	Yurika Numata-Uematsu Mitsugu Uematsu Toshiyuki Yamamoto Hirotomo Saitsu Yu Katata Yoshitsugu Oikawa Naoya Saijyo Takehiko Inui Kei Murayama Akira Ohtake Hitoshi Osaka Jun-ichi Takanashi Shigeo Kure Ken Inoue Leigh syndrome-like MRI changes in a patient with biallelic HPDL variants treated with ketogenic diet Molecular Genetics and Metabolism Reports HPDL Leukoencephalopathy Leigh syndrome Ketogenic diet Mitochondria
author_facet	Yurika Numata-Uematsu Mitsugu Uematsu Toshiyuki Yamamoto Hirotomo Saitsu Yu Katata Yoshitsugu Oikawa Naoya Saijyo Takehiko Inui Kei Murayama Akira Ohtake Hitoshi Osaka Jun-ichi Takanashi Shigeo Kure Ken Inoue
author_sort	Yurika Numata-Uematsu
title	Leigh syndrome-like MRI changes in a patient with biallelic HPDL variants treated with ketogenic diet
title_short	Leigh syndrome-like MRI changes in a patient with biallelic HPDL variants treated with ketogenic diet
title_full	Leigh syndrome-like MRI changes in a patient with biallelic HPDL variants treated with ketogenic diet
title_fullStr	Leigh syndrome-like MRI changes in a patient with biallelic HPDL variants treated with ketogenic diet
title_full_unstemmed	Leigh syndrome-like MRI changes in a patient with biallelic HPDL variants treated with ketogenic diet
title_sort	leigh syndrome-like mri changes in a patient with biallelic hpdl variants treated with ketogenic diet
publisher	Elsevier
series	Molecular Genetics and Metabolism Reports
issn	2214-4269
publishDate	2021-12-01
description	Biallelic 4-hydroxyphenylpyruvate dioxygenase-like protein (HPDL) variants were recently reported as a cause of progressive and incurable neurodegenerative diseases ranging from neonatal-onset leukoencephalopathy with severe neurodevelopmental delay to spastic paraplegia. Although the physiological function of HPDL remains unknown, its subcellular localization in the mitochondria has been reported. Here, we report a case of HPDL-related neurological disease that was clinically and neuroimaging compatible with Leigh syndrome, previously unreported, and was treated with a ketogenic diet.
topic	HPDL Leukoencephalopathy Leigh syndrome Ketogenic diet Mitochondria
url	http://www.sciencedirect.com/science/article/pii/S221442692100094X
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Leigh syndrome-like MRI changes in a patient with biallelic HPDL variants treated with ketogenic diet

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