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

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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Bibliographic Details
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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http://www.sciencedirect.com/science/article/pii/S221442692100094X

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