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 Schiff

Published 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.

Keyphrases

liver failure
respiratory failure
drug induced
aortic dissection
replacement therapy
hepatitis b virus
gene expression
dna methylation
mechanical ventilation
neural network
acute respiratory distress syndrome