{Reference Type}: Case Reports
{Title}: Late-onset cerebellar ataxia and a new frameshift L2HGDH mutation in a Chinese adult with L-2-hydroxyglutaric aciduria: a case report.
{Author}: Ding S;Yajun E;He Y;
{Journal}: Acta Neurol Belg
{Volume}: 124
{Issue}: 4
{Year}: 2024 Aug 4
{Factor}: 2.471
{DOI}: 10.1007/s13760-024-02514-z
{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.