%0 Case Reports
%T Late-onset cerebellar ataxia and a new frameshift L2HGDH mutation in a Chinese adult with L-2-hydroxyglutaric aciduria: a case report.
%A Ding S
%A Yajun E
%A He Y
%J Acta Neurol Belg
%V 124
%N 4
%D 2024 Aug 4
%M 38703293
%F 2.471
%R 10.1007/s13760-024-02514-z
%X 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.