Late-onset cerebellar ataxia and a new frameshift L2HGDH mutation in a Chinese adult with L-2-hydroxyglutaric aciduria: a case report.
Acta Neurol Belg
; 124(4): 1233-1236, 2024 Aug.
Article
en En
| MEDLINE
| ID: mdl-38703293
ABSTRACT
L-2-Hydroxyglutaric aciduria (L2HGA) is a rare, autosomal recessive neurometabolic disease, which presents with elevated L-2-hydroxyglutarate acid. Generally, L2HGA appear as slowly progressing central nervous system function deterioration during infancy, and a rapid progression in adulthood is uncommon for the syndrome's classic phenotype.
Palabras clave
Texto completo:
1
Colección:
01-internacional
Base de datos:
MEDLINE
Asunto principal:
Ataxia Cerebelosa
/
Encefalopatías Metabólicas Innatas
/
Oxidorreductasas de Alcohol
Límite:
Adult
/
Humans
Idioma:
En
Revista:
Acta Neurol Belg
/
Acta neurol. Belg
/
Acta neurologica belgica
Año:
2024
Tipo del documento:
Article
Pais de publicación:
Italia