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

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, pathoge...

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Detalles Bibliográficos
Autores principales: Kang, Qingyun, Yang, Liming, Liao, Hongmei, Yang, Sai, Yang, Haiyang, Ning, Zeshu, Liao, Caishi, Wu, Liwen
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2021
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8710692/
https://www.ncbi.nlm.nih.gov/pubmed/34966709
http://dx.doi.org/10.3389/fped.2021.801719
Descripción
Sumario: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.