1.
Acta Neurol Belg
; 124(4): 1233-1236, 2024 Aug.
Artigo
em Inglês
| MEDLINE
| ID: mdl-38703293
RESUMO
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.