Condition: Combined D-2- and L-2-hydroxyglutaric aciduria


rs781925968 in SLC25A1 gene and Combined D-2- and L-2-hydroxyglutaric aciduria PMID 29226520 2018 A novel homozygous SLC25A1 mutation with impaired mitochondrial complex V: Possible phenotypic expansion.

PMID 29238895 2018 An overview of combined D-2- and L-2-hydroxyglutaric aciduria: functional analysis of CIC variants.

PMID 23561848 2013 Deficiency in SLC25A1, encoding the mitochondrial citrate carrier, causes combined D-2- and L-2-hydroxyglutaric aciduria.

PMID 23393310 2013 Agenesis of corpus callosum and optic nerve hypoplasia due to mutations in SLC25A1 encoding the mitochondrial citrate transporter.

PMID 27306203 2016 Severe Neonatal Presentation of Mitochondrial Citrate Carrier (SLC25A1) Deficiency.

PMID 25614306 2015 Expanding the Clinical Spectrum of Mitochondrial Citrate Carrier (SLC25A1) Deficiency: Facial Dysmorphism in Siblings with Epileptic Encephalopathy and Combined D,L-2-Hydroxyglutaric Aciduria.

PMID 29031613 2018 Pathogenic mutations of the human mitochondrial citrate carrier SLC25A1 lead to impaired citrate export required for lipid, dolichol, ubiquinone and sterol synthesis.