Mutations in the SLC25A12 gene cause AGC1 deficiency, a rare infantile encephalopathy, which results in cerebral hypomyelination and low levels of N-acetyl aspartate (NAA) in the CNS due to the reduced activity of the mitochondrial carrier AGC1 [1,2]. This evidence concerns the gene SLC25A12 and hyperinsulinemic hypoglycemia, familial, 4.