Agenesis of corpus callosum and optic nerve hypoplasia due to mutations in <i>SLC25A1</i> encoding the mitochondrial citrate transporter

We report for the first time a patient with a mitochondrial citrate carrier deficiency. Our data support a role for citric acid cycle defects in agenesis of corpus callosum as already reported in patients with aconitase or fumarate hydratase deficiency.