SLC13A3 variants cause acute reversible leukoencephalopathy and α-ketoglutarate accumulation.
Joseph P DewulfElsa WiameImen DorbozMonique Elmaleh-BergèsApolline ImbardDana DumitriuMalgorzata RakAgnès BourillonRaphaël HelaersAlisha MallaFlorence RenaldoOdile Boespflug-TanguyMarie-Françoise VincentJean-François BenoistRon A WeversAvner SchlessingerEmile Van SchaftingenMarie-Cécile NassogneManuel SchiffPublished in: Annals of neurology (2019)
SLC13A3 deficiency causes acute and reversible leukoencephalopathy with marked accumulation of αKG. Urine organic acids (especially αKG and NAA) and SLC13A3 mutations should be screened in patients presenting with unexplained reversible leukoencephalopathy, for which SLC13A3 deficiency is a novel differential diagnosis. ANN NEUROL 2019;85:385-395.