AUTHOR=Kang Qingyun , Yang Liming , Liao Hongmei , Yang Sai , Yang Haiyang , Ning Zeshu , Liao Caishi , Wu Liwen TITLE=Case Report: Compound Heterozygous Variants of SLC13A3 Identified in a Chinese Patient With Acute Reversible Leukoencephalopathy and α-Ketoglutarate Accumulation JOURNAL=Frontiers in Pediatrics VOLUME=9 YEAR=2021 URL=https://www.frontiersin.org/journals/pediatrics/articles/10.3389/fped.2021.801719 DOI=10.3389/fped.2021.801719 ISSN=2296-2360 ABSTRACT=

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 variants of SLC13A3 gene were found to cause acute reversible leukoencephalopathy and α-ketoglutarate accumulation (ARLIAK) in patients. Here, we report two novel SLC13A3 variants c.185C>T (p.T62M) and c.331C>T (p.R111^*) identified in a Chinese patient with ARLIAK.

Case Presentation: The patient was a Chinese girl aged 13 years and 7 months old, who had acute, recurrent neurological deterioration during two febrile episodes. She presented with reversible leukoencephalopathy and increased urinary excretion of α-ketoglutarate. Genetic studies revealed compound heterozygous variants (c.185C>T, p.T62M, and c.331C>T, p.R111^*) in SLC13A3, which had not been reported previously.

Conclusions: These findings expand the variant spectrum of SLC13A3, providing the basis for the further study of this rare disease.