Case Report: Compound Heterozygous Variants of SLC13A3 Identified in a Chinese Patient With Acute Reversible Leukoencephalopathy and α-Ketoglutarate Accumulation

• Автори: Qingyun Kang (Автор), Liming Yang (Автор), Hongmei Liao (Автор), Sai Yang (Автор), Haiyang Yang (Автор), Zeshu Ning (Автор), Caishi Liao (Автор), Liwen Wu (Автор)
• Формат: Книга
• Опубліковано: Frontiers Media S.A., 2021-12-01T00:00:00Z.
• Предмети: article
• Онлайн доступ: Connect to this object online.

Background:SLC13A3 gene encodes the Na+/dicarboxylate cotransporter 3 (NaDC3), which locates on the plasma membrane and is mainly expressed in kidney, astrocytes and the choroid plexus. It imports four to six carbon dicarboxylates together with three Na+ ions into the cytosol. Nowadays, pathogenic v...