Deficiency in SLC25A1, encoding the mitochondrial citrate carrier, causes combined D-2- and L-2-hydroxyglutaric aciduria.

doi:10.1016/j.ajhg.2013.03.009

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Article

Deficiency in SLC25A1, encoding the mitochondrial citrate carrier, causes combined D-2- and L-2-hydroxyglutaric aciduria.

American journal of human genetics - 4 Apr 2013

Nota Benjamin, Struys Eduard A, Pop Ana, Jansen Erwin E, Fernandez Ojeda Matilde R, Kanhai Warsha A, Kranendijk Martijn, van Dooren Silvy J M, Bevova Marianna R, Sistermans Erik A, Nieuwint Aggie W M, Barth Magalie, Ben-Omran Tawfeg, Hoffmann Georg F, de Lonlay Pascale, McDonald Marie T, Meberg Alf, Muntau Ania C, Nuoffer Jean-Marc, Parini Rossella, Read Marie-Hélène, Renneberg Axel, Santer René, Strahleck Thomas, van Schaftingen Emile, van der Knaap Marjo S, Jakobs Cornelis, Salomons Gajja S

Abstract excerpt

The Krebs cycle is of fundamental importance for the generation of the energetic and molecular needs of both prokaryotic and eukaryotic cells. Both enantiomers of metabolite 2-hydroxyglutarate are directly linked to this pivotal biochemical pathway and are found elevated not only in several cancers, but also in different variants of the neurometabolic disease 2-hydroxyglutaric aciduria. Recently we showed that...

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Identifiers

PMID: 23561848
DOI: 10.1016/j.ajhg.2013.03.009
PMCID: PMC3617390

Genes

IDH2

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