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.
摘要：
L-2-羟基戊二酸尿症（L2HGA）是一种罕见的，常染色体隐性神经代谢病，其表现为升高的L-2-羟基戊二酸。一般来说,L2HGA表现为婴儿期中枢神经系统功能缓慢恶化，而成年期的快速进展对于该综合征的经典表型来说并不常见。
