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.
Highlights
The sodium-dependent dicarboxylate transporter member 3 (SLC13A3) gene encodes the Na+/dicarboxylate cotransporter 3 (NaDC3), which locates on the plasma membrane and transports important metabolic intermediates into cells [1,2,3]
Blood samples were sent to Running Gene Inc. (Beijing, China) for the whole-exome sequencing (WES)
The fever persisted at 39.3◦C and the patient showed an acute neurological deterioration including drowsiness, agitation and ataxia
Summary
The SLC13A3 gene encodes the Na+/dicarboxylate cotransporter 3 (NaDC3), which locates on the plasma membrane and transports important metabolic intermediates into cells [1,2,3]. Pathogenic variants of SLC13A3 lead to acute reversible leukoencephalopathy (a heterogeneous group of conditions characterized by developmental abnormalities or degeneration of white matter) and α-ketoglutarate accumulation (ARLIAK) [7]. 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 αketoglutarate. 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
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