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Leigh syndrome-like MRI changes in a patient with biallelic HPDL variants treated with ketogenic diet.
- Source :
-
Molecular genetics and metabolism reports [Mol Genet Metab Rep] 2021 Sep 04; Vol. 29, pp. 100800. Date of Electronic Publication: 2021 Sep 04 (Print Publication: 2021). - Publication Year :
- 2021
-
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.<br />Competing Interests: None.<br /> (© 2021 The Authors.)
Details
- Language :
- English
- ISSN :
- 2214-4269
- Volume :
- 29
- Database :
- MEDLINE
- Journal :
- Molecular genetics and metabolism reports
- Publication Type :
- Academic Journal
- Accession number :
- 34522618
- Full Text :
- https://doi.org/10.1016/j.ymgmr.2021.100800