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

• Asıl Yazarlar: Qingyun Kang (Yazar), Liming Yang (Yazar), Hongmei Liao (Yazar), Sai Yang (Yazar), Haiyang Yang (Yazar), Zeshu Ning (Yazar), Caishi Liao (Yazar), Liwen Wu (Yazar)
• Materyal Türü: Kitap
• Baskı/Yayın Bilgisi: Frontiers Media S.A., 2021-12-01T00:00:00Z.
• Konular: article
• Online Erişim: 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...