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.

• 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
• Journal: Molecular genetics and metabolism reports (Mol Genet Metab Rep) Vol. 29 Pg. 100800 (Dec 2021) ISSN: 2214-4269 [Print] United States
• PMID: 34522618 (Publication Type: Journal Article)
• Copyright: © 2021 The Authors.