Y. Numata-Uematsu, M. Uematsu, T. Yamamoto, H. Saitsu, Y. Katata, Y. Oikawa, N. Saijyo, T. Inui, K. Murayama, A. Ohtake, H. Osaka, JI. Takanashi, S. Kure, et al. (2021). Leigh syndrome-like MRI changes in a patient with biallelic HPDL variants treated with ketogenic diet. Molecular genetics and metabolism reports, 29, 100800. https://doi.org/10.1016/j.ymgmr.2021.100800

PubMed 34522618

[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.