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

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

doi:10.1016/j.ymgmr.2021.100800

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

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

Research output: Contribution to journal › Article › peer-review

5 Citations (Scopus)

Abstract

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.

Original language	English
Article number	100800
Journal	Molecular Genetics and Metabolism Reports
Volume	29
DOIs	https://doi.org/10.1016/j.ymgmr.2021.100800
Publication status	Published - 2021 Dec

Keywords

HPDL
Ketogenic diet
Leigh syndrome
Leukoencephalopathy
Mitochondria

Access to Document

10.1016/j.ymgmr.2021.100800

Cite this

Numata-Uematsu, Y., Uematsu, M., Yamamoto, T., Saitsu, H., Katata, Y., Oikawa, Y., Saijyo, N., Inui, T., Murayama, K., Ohtake, A., Osaka, H., Takanashi, J. I., Kure, S., & Inoue, K. (2021). Leigh syndrome-like MRI changes in a patient with biallelic HPDL variants treated with ketogenic diet. Molecular Genetics and Metabolism Reports, 29, Article 100800. https://doi.org/10.1016/j.ymgmr.2021.100800

@article{66b5e81ae6c2420cb946fb9c0a09f46e,

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

abstract = "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.",

keywords = "HPDL, Ketogenic diet, Leigh syndrome, Leukoencephalopathy, Mitochondria",

author = "Yurika Numata-Uematsu and Mitsugu Uematsu and Toshiyuki Yamamoto and Hirotomo Saitsu and Yu Katata and Yoshitsugu Oikawa and Naoya Saijyo and Takehiko Inui and Kei Murayama and Akira Ohtake and Hitoshi Osaka and Takanashi, {Jun ichi} and Shigeo Kure and Ken Inoue",

note = "Funding Information: We thank Dr. Syunji Mugikura and Daisuke Ito for technical assistance in the MRS analysis of this article. Publisher Copyright: {\textcopyright} 2021 The Authors",

year = "2021",

month = dec,

doi = "10.1016/j.ymgmr.2021.100800",

language = "English",

volume = "29",

journal = "Molecular Genetics and Metabolism Reports",

issn = "2214-4269",

publisher = "Elsevier BV",

}

Numata-Uematsu, Y , Uematsu, M, Yamamoto, T, Saitsu, H, Katata, Y, Oikawa, Y, Saijyo, N, Inui, T, Murayama, K, Ohtake, A, Osaka, H, Takanashi, JI, Kure, S & Inoue, K 2021, 'Leigh syndrome-like MRI changes in a patient with biallelic HPDL variants treated with ketogenic diet', Molecular Genetics and Metabolism Reports, vol. 29, 100800. https://doi.org/10.1016/j.ymgmr.2021.100800

TY - JOUR

T1 - Leigh syndrome-like MRI changes in a patient with biallelic HPDL variants treated with ketogenic diet

AU - Numata-Uematsu, Yurika

AU - Uematsu, Mitsugu

AU - Yamamoto, Toshiyuki

AU - Saitsu, Hirotomo

AU - Katata, Yu

AU - Oikawa, Yoshitsugu

AU - Saijyo, Naoya

AU - Inui, Takehiko

AU - Murayama, Kei

AU - Ohtake, Akira

AU - Osaka, Hitoshi

AU - Takanashi, Jun ichi

AU - Kure, Shigeo

AU - Inoue, Ken

PY - 2021/12

Y1 - 2021/12

N2 - 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.

AB - 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.

KW - HPDL

KW - Ketogenic diet

KW - Leigh syndrome

KW - Leukoencephalopathy

KW - Mitochondria

UR - http://www.scopus.com/inward/record.url?scp=85114148186&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=85114148186&partnerID=8YFLogxK

U2 - 10.1016/j.ymgmr.2021.100800

DO - 10.1016/j.ymgmr.2021.100800

M3 - Article

AN - SCOPUS:85114148186

SN - 2214-4269

VL - 29

JO - Molecular Genetics and Metabolism Reports

JF - Molecular Genetics and Metabolism Reports

M1 - 100800

ER -

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

Abstract

Keywords

Access to Document

Other files and links

Fingerprint

Cite this