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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Detalles Bibliográficos
Autores principales: Numata-Uematsu, Yurika, Uematsu, Mitsugu, Yamamoto, Toshiyuki, Saitsu, Hirotomo, Katata, Yu, Oikawa, Yoshitsugu, Saijyo, Naoya, Inui, Takehiko, Murayama, Kei, Ohtake, Akira, Osaka, Hitoshi, Takanashi, Jun-ichi, Kure, Shigeo, Inoue, Ken
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2021
Materias:
Short Communication
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8427265/
https://www.ncbi.nlm.nih.gov/pubmed/34522618
http://dx.doi.org/10.1016/j.ymgmr.2021.100800
Descripción
Sumario: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.

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