迟发性小脑共济失调和 L-2-羟戊二酸尿症中国成人中新的移码 L2HGDH 突变：病例报告。
Late-onset cerebellar ataxia and a new frameshift L2HGDH mutation in a Chinese adult with L-2-hydroxyglutaric aciduria: a case report.
机构信息
Yiwu Central Hospital Affiliated to Wenzhou Medical University, 699 Jiangdong Road, Yiwu City, 322000, Zhejiang Province, People's Republic of China.
First Affiliated Hospital of Wenzhou Medical University, Nanbaixiang, Ouhai Direct, Wenzhou City, 325000, Zhejiang Province, People's Republic of China.
出版信息
Acta Neurol Belg. 2024 Aug;124(4):1233-1236. doi: 10.1007/s13760-024-02514-z. Epub 2024 May 4.
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.
L-2-羟戊二酸尿症（L2HGA）是一种罕见的常染色体隐性神经代谢疾病，其特征是 L-2-羟戊二酸水平升高。一般来说，L2HGA 在婴儿期表现为中枢神经系统功能进行性恶化，而在成年期出现综合征典型表型的快速进展则较为罕见。
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