{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,14]],"date-time":"2026-10-14T11:45:58Z","timestamp":1791978358661,"version":"4.4.0"},"reference-count":13,"publisher":"Frontiers Media SA","license":[{"start":{"date-parts":[[2021,12,13]],"date-time":"2021-12-13T00:00:00Z","timestamp":1639353600000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":["frontiersin.org"],"crossmark-restriction":true},"short-container-title":["Front. Pediatr."],"abstract":"<jats:p>\n                    <jats:bold>Background:<\/jats:bold>\n                    <jats:italic>SLC13A3<\/jats:italic>\n                    gene encodes the Na\n                    <jats:sup>+<\/jats:sup>\n                    \/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\n                    <jats:sup>+<\/jats:sup>\n                    ions into the cytosol. Nowadays, pathogenic variants of\n                    <jats:italic>SLC13A3<\/jats:italic>\n                    gene were found to cause acute reversible leukoencephalopathy and \u03b1-ketoglutarate accumulation (ARLIAK) in patients. Here, we report two novel\n                    <jats:italic>SLC13A3<\/jats:italic>\n                    variants c.185C&amp;gt;T (p.T62M) and c.331C&amp;gt;T (p.R111\n                    <jats:sup>*<\/jats:sup>\n                    ) identified in a Chinese patient with ARLIAK.\n                  <\/jats:p>\n                  <jats:p>\n                    <jats:bold>Case Presentation:<\/jats:bold>\n                    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 \u03b1-ketoglutarate. Genetic studies revealed compound heterozygous variants (c.185C&amp;gt;T, p.T62M, and c.331C&amp;gt;T, p.R111\n                    <jats:sup>*<\/jats:sup>\n                    ) in\n                    <jats:italic>SLC13A3<\/jats:italic>\n                    , which had not been reported previously.\n                  <\/jats:p>\n                  <jats:p>\n                    <jats:bold>Conclusions:<\/jats:bold>\n                    These findings expand the variant spectrum of\n                    <jats:italic>SLC13A3<\/jats:italic>\n                    , providing the basis for the further study of this rare disease.\n                  <\/jats:p>","DOI":"10.3389\/fped.2021.801719","type":"journal-article","created":{"date-parts":[[2021,12,13]],"date-time":"2021-12-13T03:09:41Z","timestamp":1639364981000},"update-policy":"https:\/\/doi.org\/10.3389\/crossmark-policy","source":"Crossref","is-referenced-by-count":7,"title":["Case Report: Compound Heterozygous Variants of SLC13A3 Identified in a Chinese Patient With Acute Reversible Leukoencephalopathy and \u03b1-Ketoglutarate Accumulation"],"prefix":"10.3389","volume":"9","author":[{"given":"Qingyun","family":"Kang","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Liming","family":"Yang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hongmei","family":"Liao","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sai","family":"Yang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Haiyang","family":"Yang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Zeshu","family":"Ning","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Caishi","family":"Liao","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Liwen","family":"Wu","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1965","published-online":{"date-parts":[[2021,12,13]]},"reference":[{"key":"B1","doi-asserted-by":"publisher","first-page":"299","DOI":"10.1016\/j.mam.2012.12.001","article-title":"SLC13 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