An overview of combined D-2- and L-2-hydroxyglutaric aciduria: functional analysis of CIC variants.

doi:10.1007/s10545-017-0106-7

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Article

An overview of combined D-2- and L-2-hydroxyglutaric aciduria: functional analysis of CIC variants.

Journal of inherited metabolic disease - 1 Mar 2018

Pop Ana, Williams Monique, Struys Eduard A, Monné Magnus, Jansen Erwin E W, De Grassi Anna, Kanhai Warsha A, Scarcia Pasquale, Ojeda Matilde R Fernandez, Porcelli Vito, van Dooren Silvy J M, Lennertz Pascal, Nota Benjamin, Abdenur Jose E, Coman David, Das Anibh Martin, El-Gharbawy Areeg, Nuoffer Jean-Marc, Polic Branka, Santer René, Weinhold Natalie, Zuccarelli Britton, Palmieri Ferdinando, Palmieri Luigi, Salomons Gajja S

Abstract excerpt

Combined D-2- and L-2-hydroxyglutaric aciduria (D/L-2-HGA) is a devastating neurometabolic disorder, usually lethal in the first years of life. Autosomal recessive mutations in the SLC25A1 gene, which encodes the mitochondrial citrate carrier (CIC), were previously detected in patients affected with combined D/L-2-HGA. We showed that transfection of deficient fibroblasts with wild-type SLC25A1 restored citrate...

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PMID: 29238895
DOI: 10.1007/s10545-017-0106-7
PMCID: PMC5830478

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