Fayed Abdel-Ghaffar Ismail, Mohamed Mohie-Eldin Tharwat, Abed Elsayed, Meshref Mostafa, Ali Mahmoud Ahmed
Department of Neurology, Faculty of Medicine, Al-Azhar university, Cairo, Egypt.
Department of Neurology, The Royal Wolverhampton NHS Trust, Wolverhampton, UK.
Neurocase. 2024 Apr;30(2):77-82. doi: 10.1080/13554794.2024.2346978. Epub 2024 May 25.
L-2-hydroxyglutaric aciduria (L-2-HGA) is a rare autosomal recessive disease characterized by elevated levels of hydroxyglutaric acid in the body fluids and brain with abnormal white matter. We present two siblings with psychomotor retardation and quadriparesis. Their brain imaging showed diffuse bilateral symmetrical involvement of the cerebral cortex, white matter, basal ganglia and cerebellum. The whole exome sequence studies revealed a homozygous likely pathogenic variant on chromosome 14q22.1 (NM_024884.2: c.178G > A; pGly60Arg) in the gene encoding for L-2-hydroxyglutarate dehydrogenase (L2HGDH) (OMIM #236792). Therefore, using the L2HGDH gene study is beneficial for L2HGA diagnosis.
L-2-羟基戊二酸尿症（L-2-HGA）是一种罕见的常染色体隐性疾病，其特征是体液和大脑中羟基戊二酸水平升高且白质异常。我们报告了两名患有精神运动发育迟缓及四肢瘫痪的同胞。他们的脑部影像学检查显示双侧大脑皮质、白质、基底神经节和小脑弥漫性对称受累。全外显子测序研究显示，在编码L-2-羟基戊二酸脱氢酶（L2HGDH）（OMIM #236792）的基因中，14q22.1染色体上存在一个纯合的可能致病变异（NM_024884.2: c.178G > A; pGly60Arg）。因此，使用L2HGDH基因研究对L2HGA的诊断有益。
