Leigh syndrome-like MRI changes in a patient with biallelic HPDL variants treated with ketogenic diet.
Mol Genet Metab Rep
; 29: 100800, 2021 Dec.
Article
en En
| MEDLINE
| ID: mdl-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.
Texto completo:
1
Colección:
01-internacional
Banco de datos:
MEDLINE
Idioma:
En
Revista:
Mol Genet Metab Rep
Año:
2021
Tipo del documento:
Article
País de afiliación:
Japón