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 journalArticlepeer-review

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 languageEnglish
Article number100800
JournalMolecular Genetics and Metabolism Reports
Volume29
DOIs
Publication statusPublished - 2021 Dec

Keywords

  • HPDL
  • Ketogenic diet
  • Leigh syndrome
  • Leukoencephalopathy
  • Mitochondria

ASJC Scopus subject areas

  • Molecular Biology
  • Genetics
  • Endocrinology

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