Moreover, the homozygous patients have common central nervous clinical features like psychomotor delay, epilepsy or corpus callosum agenesia, with a distinctive neuroimaging pattern [5–7], differently from other inborn errors of ketone utilization like succinyl CoA oxoacid transferase (SCOT) deficiency (MIM#245050) and mitochondrial acetoacetyl-CoA thiolase (ACAT1) deficiency (MIM#203750) [25]. This evidence concerns the gene OXCT1 and Global developmental delay.